Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144398576T>ACA348707766ZEB2c.*2460A>T (n.*2460A>T)
c.1834A>T (p.Asn612Tyr)
c.2611A>T (p.Asn871Tyr)
n.2580A>T
c.2275A>T (p.Asn759Tyr)
c.2686A>T (p.Asn896Tyr)
c.*2328A>T (n.*2328A>T)
n.2711A>T
c.142A>T (p.Asn48Tyr)
c.2608A>T (p.Asn870Tyr)
c.655+2623A>T (n.655+2623A>T)
c.1168-648A>T (n.1168-648A>T)
c.2539A>T (p.Asn847Tyr)
c.2602A>T (p.Asn868Tyr)
c.2590A>T (p.Asn864Tyr)
2g.144398576T>CCA348707769ZEB2c.*2460A>G (n.*2460A>G)
c.1834A>G (p.Asn612Asp)
c.2611A>G (p.Asn871Asp)
n.2580A>G
c.2275A>G (p.Asn759Asp)
c.2686A>G (p.Asn896Asp)
c.*2328A>G (n.*2328A>G)
n.2711A>G
c.142A>G (p.Asn48Asp)
c.2608A>G (p.Asn870Asp)
c.655+2623A>G (n.655+2623A>G)
c.1168-648A>G (n.1168-648A>G)
c.2539A>G (p.Asn847Asp)
c.2602A>G (p.Asn868Asp)
c.2590A>G (p.Asn864Asp)
 gnomAD v4
2g.144398576T>GCA348707767ZEB2c.*2460A>C (n.*2460A>C)
c.1834A>C (p.Asn612His)
c.2611A>C (p.Asn871His)
n.2580A>C
c.2275A>C (p.Asn759His)
c.2686A>C (p.Asn896His)
c.*2328A>C (n.*2328A>C)
n.2711A>C
c.142A>C (p.Asn48His)
c.2608A>C (p.Asn870His)
c.655+2623A>C (n.655+2623A>C)
c.1168-648A>C (n.1168-648A>C)
c.2539A>C (p.Asn847His)
c.2602A>C (p.Asn868His)
c.2590A>C (p.Asn864His)
2g.144398577T>ACA429445245ZEB2c.*2459A>T (n.*2459A>T)
c.1833A>T (p.Ser611=)
c.2610A>T (p.Ser870=)
n.2579A>T
c.2274A>T (p.Ser758=)
c.2685A>T (p.Ser895=)
c.*2327A>T (n.*2327A>T)
n.2710A>T
c.141A>T (p.Ser47=)
c.2607A>T (p.Ser869=)
c.655+2622A>T (n.655+2622A>T)
c.1168-649A>T (n.1168-649A>T)
c.2538A>T (p.Ser846=)
c.2601A>T (p.Ser867=)
c.2589A>T (p.Ser863=)
2g.144398577T>CCA429445246ZEB2c.*2459A>G (n.*2459A>G)
c.1833A>G (p.Ser611=)
c.2610A>G (p.Ser870=)
n.2579A>G
c.2274A>G (p.Ser758=)
c.2685A>G (p.Ser895=)
c.*2327A>G (n.*2327A>G)
n.2710A>G
c.141A>G (p.Ser47=)
c.2607A>G (p.Ser869=)
c.655+2622A>G (n.655+2622A>G)
c.1168-649A>G (n.1168-649A>G)
c.2538A>G (p.Ser846=)
c.2601A>G (p.Ser867=)
c.2589A>G (p.Ser863=)
2g.144398577T>GCA429445247ZEB2c.*2459A>C (n.*2459A>C)
c.1833A>C (p.Ser611=)
c.2610A>C (p.Ser870=)
n.2579A>C
c.2274A>C (p.Ser758=)
c.2685A>C (p.Ser895=)
c.*2327A>C (n.*2327A>C)
n.2710A>C
c.141A>C (p.Ser47=)
c.2607A>C (p.Ser869=)
c.655+2622A>C (n.655+2622A>C)
c.1168-649A>C (n.1168-649A>C)
c.2538A>C (p.Ser846=)
c.2601A>C (p.Ser867=)
c.2589A>C (p.Ser863=)
2g.144398578G>ACA348707771ZEB2c.*2458C>T (n.*2458C>T)
c.1832C>T (p.Ser611Leu)
c.2609C>T (p.Ser870Leu)
n.2578C>T
c.2273C>T (p.Ser758Leu)
c.2684C>T (p.Ser895Leu)
c.*2326C>T (n.*2326C>T)
n.2709C>T
c.140C>T (p.Ser47Leu)
c.2606C>T (p.Ser869Leu)
c.655+2621C>T (n.655+2621C>T)
c.1168-650C>T (n.1168-650C>T)
c.2537C>T (p.Ser846Leu)
c.2600C>T (p.Ser867Leu)
c.2588C>T (p.Ser863Leu)
2g.144398578G>CCA348707774ZEB2c.*2458C>G (n.*2458C>G)
c.1832C>G (p.Ser611Ter)
c.2609C>G (p.Ser870Ter)
n.2578C>G
c.2273C>G (p.Ser758Ter)
c.2684C>G (p.Ser895Ter)
c.*2326C>G (n.*2326C>G)
n.2709C>G
c.140C>G (p.Ser47Ter)
c.2606C>G (p.Ser869Ter)
c.655+2621C>G (n.655+2621C>G)
c.1168-650C>G (n.1168-650C>G)
c.2537C>G (p.Ser846Ter)
c.2600C>G (p.Ser867Ter)
c.2588C>G (p.Ser863Ter)
2g.144398578G=CA1294884955ZEB2c.*2458C= (n.*2458C=)
c.1832C= (p.Ser611=)
c.2609C= (p.Ser870=)
n.2578C=
c.2273C= (p.Ser758=)
c.2684C= (p.Ser895=)
c.*2326C= (n.*2326C=)
n.2709C=
c.140C= (p.Ser47=)
c.2606C= (p.Ser869=)
c.655+2621C= (n.655+2621C=)
c.1168-650C= (n.1168-650C=)
c.2537C= (p.Ser846=)
c.2600C= (p.Ser867=)
c.2588C= (p.Ser863=)
2g.144398578G>TCA348707772ZEB2c.*2458C>A (n.*2458C>A)
c.1832C>A (p.Ser611Ter)
c.2609C>A (p.Ser870Ter)
n.2578C>A
c.2273C>A (p.Ser758Ter)
c.2684C>A (p.Ser895Ter)
c.*2326C>A (n.*2326C>A)
n.2709C>A
c.140C>A (p.Ser47Ter)
c.2606C>A (p.Ser869Ter)
c.655+2621C>A (n.655+2621C>A)
c.1168-650C>A (n.1168-650C>A)
c.2537C>A (p.Ser846Ter)
c.2600C>A (p.Ser867Ter)
c.2588C>A (p.Ser863Ter)
 ClinVar dbSNP
2g.144398579A>CCA348707776ZEB2c.*2457T>G (n.*2457T>G)
c.1831T>G (p.Ser611Ala)
c.2608T>G (p.Ser870Ala)
n.2577T>G
c.2272T>G (p.Ser758Ala)
c.2683T>G (p.Ser895Ala)
c.*2325T>G (n.*2325T>G)
n.2708T>G
c.139T>G (p.Ser47Ala)
c.2605T>G (p.Ser869Ala)
c.655+2620T>G (n.655+2620T>G)
c.1168-651T>G (n.1168-651T>G)
c.2536T>G (p.Ser846Ala)
c.2599T>G (p.Ser867Ala)
c.2587T>G (p.Ser863Ala)
2g.144398579A>GCA348707779ZEB2c.*2457T>C (n.*2457T>C)
c.1831T>C (p.Ser611Pro)
c.2608T>C (p.Ser870Pro)
n.2577T>C
c.2272T>C (p.Ser758Pro)
c.2683T>C (p.Ser895Pro)
c.*2325T>C (n.*2325T>C)
n.2708T>C
c.139T>C (p.Ser47Pro)
c.2605T>C (p.Ser869Pro)
c.655+2620T>C (n.655+2620T>C)
c.1168-651T>C (n.1168-651T>C)
c.2536T>C (p.Ser846Pro)
c.2599T>C (p.Ser867Pro)
c.2587T>C (p.Ser863Pro)
2g.144398579A>TCA348707777ZEB2c.*2457T>A (n.*2457T>A)
c.1831T>A (p.Ser611Thr)
c.2608T>A (p.Ser870Thr)
n.2577T>A
c.2272T>A (p.Ser758Thr)
c.2683T>A (p.Ser895Thr)
c.*2325T>A (n.*2325T>A)
n.2708T>A
c.139T>A (p.Ser47Thr)
c.2605T>A (p.Ser869Thr)
c.655+2620T>A (n.655+2620T>A)
c.1168-651T>A (n.1168-651T>A)
c.2536T>A (p.Ser846Thr)
c.2599T>A (p.Ser867Thr)
c.2587T>A (p.Ser863Thr)
2g.144398580A>CCA348707781ZEB2c.*2456T>G (n.*2456T>G)
c.1830T>G (p.Phe610Leu)
c.2607T>G (p.Phe869Leu)
n.2576T>G
c.2271T>G (p.Phe757Leu)
c.2682T>G (p.Phe894Leu)
c.*2324T>G (n.*2324T>G)
n.2707T>G
c.138T>G (p.Phe46Leu)
c.2604T>G (p.Phe868Leu)
c.655+2619T>G (n.655+2619T>G)
c.1168-652T>G (n.1168-652T>G)
c.2535T>G (p.Phe845Leu)
c.2598T>G (p.Phe866Leu)
c.2586T>G (p.Phe862Leu)
2g.144398580A>GCA429445256ZEB2c.*2456T>C (n.*2456T>C)
c.1830T>C (p.Phe610=)
c.2607T>C (p.Phe869=)
n.2576T>C
c.2271T>C (p.Phe757=)
c.2682T>C (p.Phe894=)
c.*2324T>C (n.*2324T>C)
n.2707T>C
c.138T>C (p.Phe46=)
c.2604T>C (p.Phe868=)
c.655+2619T>C (n.655+2619T>C)
c.1168-652T>C (n.1168-652T>C)
c.2535T>C (p.Phe845=)
c.2598T>C (p.Phe866=)
c.2586T>C (p.Phe862=)
2g.144398580A>TCA348707782ZEB2c.*2456T>A (n.*2456T>A)
c.1830T>A (p.Phe610Leu)
c.2607T>A (p.Phe869Leu)
n.2576T>A
c.2271T>A (p.Phe757Leu)
c.2682T>A (p.Phe894Leu)
c.*2324T>A (n.*2324T>A)
n.2707T>A
c.138T>A (p.Phe46Leu)
c.2604T>A (p.Phe868Leu)
c.655+2619T>A (n.655+2619T>A)
c.1168-652T>A (n.1168-652T>A)
c.2535T>A (p.Phe845Leu)
c.2598T>A (p.Phe866Leu)
c.2586T>A (p.Phe862Leu)
2g.144398581A>CCA348707784ZEB2c.*2455T>G (n.*2455T>G)
c.1829T>G (p.Phe610Cys)
c.2606T>G (p.Phe869Cys)
n.2575T>G
c.2270T>G (p.Phe757Cys)
c.2681T>G (p.Phe894Cys)
c.*2323T>G (n.*2323T>G)
n.2706T>G
c.137T>G (p.Phe46Cys)
c.2603T>G (p.Phe868Cys)
c.655+2618T>G (n.655+2618T>G)
c.1168-653T>G (n.1168-653T>G)
c.2534T>G (p.Phe845Cys)
c.2597T>G (p.Phe866Cys)
c.2585T>G (p.Phe862Cys)
2g.144398581A>GCA348707786ZEB2c.*2455T>C (n.*2455T>C)
c.1829T>C (p.Phe610Ser)
c.2606T>C (p.Phe869Ser)
n.2575T>C
c.2270T>C (p.Phe757Ser)
c.2681T>C (p.Phe894Ser)
c.*2323T>C (n.*2323T>C)
n.2706T>C
c.137T>C (p.Phe46Ser)
c.2603T>C (p.Phe868Ser)
c.655+2618T>C (n.655+2618T>C)
c.1168-653T>C (n.1168-653T>C)
c.2534T>C (p.Phe845Ser)
c.2597T>C (p.Phe866Ser)
c.2585T>C (p.Phe862Ser)
2g.144398581A>TCA348707787ZEB2c.*2455T>A (n.*2455T>A)
c.1829T>A (p.Phe610Tyr)
c.2606T>A (p.Phe869Tyr)
n.2575T>A
c.2270T>A (p.Phe757Tyr)
c.2681T>A (p.Phe894Tyr)
c.*2323T>A (n.*2323T>A)
n.2706T>A
c.137T>A (p.Phe46Tyr)
c.2603T>A (p.Phe868Tyr)
c.655+2618T>A (n.655+2618T>A)
c.1168-653T>A (n.1168-653T>A)
c.2534T>A (p.Phe845Tyr)
c.2597T>A (p.Phe866Tyr)
c.2585T>A (p.Phe862Tyr)
2g.144398582A>CCA348707789ZEB2c.*2454T>G (n.*2454T>G)
c.1828T>G (p.Phe610Val)
c.2605T>G (p.Phe869Val)
n.2574T>G
c.2269T>G (p.Phe757Val)
c.2680T>G (p.Phe894Val)
c.*2322T>G (n.*2322T>G)
n.2705T>G
c.136T>G (p.Phe46Val)
c.2602T>G (p.Phe868Val)
c.655+2617T>G (n.655+2617T>G)
c.1168-654T>G (n.1168-654T>G)
c.2533T>G (p.Phe845Val)
c.2596T>G (p.Phe866Val)
c.2584T>G (p.Phe862Val)
2g.144398582A>GCA348707790ZEB2c.*2454T>C (n.*2454T>C)
c.1828T>C (p.Phe610Leu)
c.2605T>C (p.Phe869Leu)
n.2574T>C
c.2269T>C (p.Phe757Leu)
c.2680T>C (p.Phe894Leu)
c.*2322T>C (n.*2322T>C)
n.2705T>C
c.136T>C (p.Phe46Leu)
c.2602T>C (p.Phe868Leu)
c.655+2617T>C (n.655+2617T>C)
c.1168-654T>C (n.1168-654T>C)
c.2533T>C (p.Phe845Leu)
c.2596T>C (p.Phe866Leu)
c.2584T>C (p.Phe862Leu)
2g.144398582A>TCA348707792ZEB2c.*2454T>A (n.*2454T>A)
c.1828T>A (p.Phe610Ile)
c.2605T>A (p.Phe869Ile)
n.2574T>A
c.2269T>A (p.Phe757Ile)
c.2680T>A (p.Phe894Ile)
c.*2322T>A (n.*2322T>A)
n.2705T>A
c.136T>A (p.Phe46Ile)
c.2602T>A (p.Phe868Ile)
c.655+2617T>A (n.655+2617T>A)
c.1168-654T>A (n.1168-654T>A)
c.2533T>A (p.Phe845Ile)
c.2596T>A (p.Phe866Ile)
c.2584T>A (p.Phe862Ile)
2g.144398583T>ACA348707793ZEB2c.*2453A>T (n.*2453A>T)
c.1827A>T (p.Glu609Asp)
c.2604A>T (p.Glu868Asp)
n.2573A>T
c.2268A>T (p.Glu756Asp)
c.2679A>T (p.Glu893Asp)
c.*2321A>T (n.*2321A>T)
n.2704A>T
c.135A>T (p.Glu45Asp)
c.2601A>T (p.Glu867Asp)
c.655+2616A>T (n.655+2616A>T)
c.1168-655A>T (n.1168-655A>T)
c.2532A>T (p.Glu844Asp)
c.2595A>T (p.Glu865Asp)
c.2583A>T (p.Glu861Asp)
2g.144398583T>CCA429445264ZEB2c.*2453A>G (n.*2453A>G)
c.1827A>G (p.Glu609=)
c.2604A>G (p.Glu868=)
n.2573A>G
c.2268A>G (p.Glu756=)
c.2679A>G (p.Glu893=)
c.*2321A>G (n.*2321A>G)
n.2704A>G
c.135A>G (p.Glu45=)
c.2601A>G (p.Glu867=)
c.655+2616A>G (n.655+2616A>G)
c.1168-655A>G (n.1168-655A>G)
c.2532A>G (p.Glu844=)
c.2595A>G (p.Glu865=)
c.2583A>G (p.Glu861=)
 dbSNP
2g.144398583T>GCA348707794ZEB2c.*2453A>C (n.*2453A>C)
c.1827A>C (p.Glu609Asp)
c.2604A>C (p.Glu868Asp)
n.2573A>C
c.2268A>C (p.Glu756Asp)
c.2679A>C (p.Glu893Asp)
c.*2321A>C (n.*2321A>C)
n.2704A>C
c.135A>C (p.Glu45Asp)
c.2601A>C (p.Glu867Asp)
c.655+2616A>C (n.655+2616A>C)
c.1168-655A>C (n.1168-655A>C)
c.2532A>C (p.Glu844Asp)
c.2595A>C (p.Glu865Asp)
c.2583A>C (p.Glu861Asp)
2g.144398583T=CA1294884956ZEB2c.*2453A= (n.*2453A=)
c.1827A= (p.Glu609=)
c.2604A= (p.Glu868=)
n.2573A=
c.2268A= (p.Glu756=)
c.2679A= (p.Glu893=)
c.*2321A= (n.*2321A=)
n.2704A=
c.135A= (p.Glu45=)
c.2601A= (p.Glu867=)
c.655+2616A= (n.655+2616A=)
c.1168-655A= (n.1168-655A=)
c.2532A= (p.Glu844=)
c.2595A= (p.Glu865=)
c.2583A= (p.Glu861=)
2g.144398584T>ACA348707800ZEB2c.*2452A>T (n.*2452A>T)
c.1826A>T (p.Glu609Val)
c.2603A>T (p.Glu868Val)
n.2572A>T
c.2267A>T (p.Glu756Val)
c.2678A>T (p.Glu893Val)
c.*2320A>T (n.*2320A>T)
n.2703A>T
c.134A>T (p.Glu45Val)
c.2600A>T (p.Glu867Val)
c.655+2615A>T (n.655+2615A>T)
c.1168-656A>T (n.1168-656A>T)
c.2531A>T (p.Glu844Val)
c.2594A>T (p.Glu865Val)
c.2582A>T (p.Glu861Val)
2g.144398584T>CCA348707798ZEB2c.*2452A>G (n.*2452A>G)
c.1826A>G (p.Glu609Gly)
c.2603A>G (p.Glu868Gly)
n.2572A>G
c.2267A>G (p.Glu756Gly)
c.2678A>G (p.Glu893Gly)
c.*2320A>G (n.*2320A>G)
n.2703A>G
c.134A>G (p.Glu45Gly)
c.2600A>G (p.Glu867Gly)
c.655+2615A>G (n.655+2615A>G)
c.1168-656A>G (n.1168-656A>G)
c.2531A>G (p.Glu844Gly)
c.2594A>G (p.Glu865Gly)
c.2582A>G (p.Glu861Gly)
2g.144398584T>GCA348707796ZEB2c.*2452A>C (n.*2452A>C)
c.1826A>C (p.Glu609Ala)
c.2603A>C (p.Glu868Ala)
n.2572A>C
c.2267A>C (p.Glu756Ala)
c.2678A>C (p.Glu893Ala)
c.*2320A>C (n.*2320A>C)
n.2703A>C
c.134A>C (p.Glu45Ala)
c.2600A>C (p.Glu867Ala)
c.655+2615A>C (n.655+2615A>C)
c.1168-656A>C (n.1168-656A>C)
c.2531A>C (p.Glu844Ala)
c.2594A>C (p.Glu865Ala)
c.2582A>C (p.Glu861Ala)
2g.144398585C>ACA348707801ZEB2c.*2451G>T (n.*2451G>T)
c.1825G>T (p.Glu609Ter)
c.2602G>T (p.Glu868Ter)
n.2571G>T
c.2266G>T (p.Glu756Ter)
c.2677G>T (p.Glu893Ter)
c.*2319G>T (n.*2319G>T)
n.2702G>T
c.133G>T (p.Glu45Ter)
c.2599G>T (p.Glu867Ter)
c.655+2614G>T (n.655+2614G>T)
c.1168-657G>T (n.1168-657G>T)
c.2530G>T (p.Glu844Ter)
c.2593G>T (p.Glu865Ter)
c.2581G>T (p.Glu861Ter)
2g.144398585C=CA1294884957ZEB2c.*2451G= (n.*2451G=)
c.1825G= (p.Glu609=)
c.2602G= (p.Glu868=)
n.2571G=
c.2266G= (p.Glu756=)
c.2677G= (p.Glu893=)
c.*2319G= (n.*2319G=)
n.2702G=
c.133G= (p.Glu45=)
c.2599G= (p.Glu867=)
c.655+2614G= (n.655+2614G=)
c.1168-657G= (n.1168-657G=)
c.2530G= (p.Glu844=)
c.2593G= (p.Glu865=)
c.2581G= (p.Glu861=)
2g.144398585C>GCA348707803ZEB2c.*2451G>C (n.*2451G>C)
c.1825G>C (p.Glu609Gln)
c.2602G>C (p.Glu868Gln)
n.2571G>C
c.2266G>C (p.Glu756Gln)
c.2677G>C (p.Glu893Gln)
c.*2319G>C (n.*2319G>C)
n.2702G>C
c.133G>C (p.Glu45Gln)
c.2599G>C (p.Glu867Gln)
c.655+2614G>C (n.655+2614G>C)
c.1168-657G>C (n.1168-657G>C)
c.2530G>C (p.Glu844Gln)
c.2593G>C (p.Glu865Gln)
c.2581G>C (p.Glu861Gln)
2g.144398585C>TCA16621757ZEB2c.*2451G>A (n.*2451G>A)
c.1825G>A (p.Glu609Lys)
c.2602G>A (p.Glu868Lys)
n.2571G>A
c.2266G>A (p.Glu756Lys)
c.2677G>A (p.Glu893Lys)
c.*2319G>A (n.*2319G>A)
n.2702G>A
c.133G>A (p.Glu45Lys)
c.2599G>A (p.Glu867Lys)
c.655+2614G>A (n.655+2614G>A)
c.1168-657G>A (n.1168-657G>A)
c.2530G>A (p.Glu844Lys)
c.2593G>A (p.Glu865Lys)
c.2581G>A (p.Glu861Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398586C>ACA348707806ZEB2c.*2450G>T (n.*2450G>T)
c.1824G>T (p.Lys608Asn)
c.2601G>T (p.Lys867Asn)
n.2570G>T
c.2265G>T (p.Lys755Asn)
c.2676G>T (p.Lys892Asn)
c.*2318G>T (n.*2318G>T)
n.2701G>T
c.132G>T (p.Lys44Asn)
c.2598G>T (p.Lys866Asn)
c.655+2613G>T (n.655+2613G>T)
c.1168-658G>T (n.1168-658G>T)
c.2529G>T (p.Lys843Asn)
c.2592G>T (p.Lys864Asn)
c.2580G>T (p.Lys860Asn)
2g.144398586C=CA1294884958ZEB2c.*2450G= (n.*2450G=)
c.1824G= (p.Lys608=)
c.2601G= (p.Lys867=)
n.2570G=
c.2265G= (p.Lys755=)
c.2676G= (p.Lys892=)
c.*2318G= (n.*2318G=)
n.2701G=
c.132G= (p.Lys44=)
c.2598G= (p.Lys866=)
c.655+2613G= (n.655+2613G=)
c.1168-658G= (n.1168-658G=)
c.2529G= (p.Lys843=)
c.2592G= (p.Lys864=)
c.2580G= (p.Lys860=)
2g.144398586C>GCA348707808ZEB2c.*2450G>C (n.*2450G>C)
c.1824G>C (p.Lys608Asn)
c.2601G>C (p.Lys867Asn)
n.2570G>C
c.2265G>C (p.Lys755Asn)
c.2676G>C (p.Lys892Asn)
c.*2318G>C (n.*2318G>C)
n.2701G>C
c.132G>C (p.Lys44Asn)
c.2598G>C (p.Lys866Asn)
c.655+2613G>C (n.655+2613G>C)
c.1168-658G>C (n.1168-658G>C)
c.2529G>C (p.Lys843Asn)
c.2592G>C (p.Lys864Asn)
c.2580G>C (p.Lys860Asn)
2g.144398586C>TCA291675ZEB2c.*2450G>A (n.*2450G>A)
c.1824G>A (p.Lys608=)
c.2601G>A (p.Lys867=)
n.2570G>A
c.2265G>A (p.Lys755=)
c.2676G>A (p.Lys892=)
c.*2318G>A (n.*2318G>A)
n.2701G>A
c.132G>A (p.Lys44=)
c.2598G>A (p.Lys866=)
c.655+2613G>A (n.655+2613G>A)
c.1168-658G>A (n.1168-658G>A)
c.2529G>A (p.Lys843=)
c.2592G>A (p.Lys864=)
c.2580G>A (p.Lys860=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398587T>ACA348707811ZEB2c.*2449A>T (n.*2449A>T)
c.1823A>T (p.Lys608Met)
c.2600A>T (p.Lys867Met)
n.2569A>T
c.2264A>T (p.Lys755Met)
c.2675A>T (p.Lys892Met)
c.*2317A>T (n.*2317A>T)
n.2700A>T
c.131A>T (p.Lys44Met)
c.2597A>T (p.Lys866Met)
c.655+2612A>T (n.655+2612A>T)
c.1168-659A>T (n.1168-659A>T)
c.2528A>T (p.Lys843Met)
c.2591A>T (p.Lys864Met)
c.2579A>T (p.Lys860Met)
2g.144398587T>CCA348707813ZEB2c.*2449A>G (n.*2449A>G)
c.1823A>G (p.Lys608Arg)
c.2600A>G (p.Lys867Arg)
n.2569A>G
c.2264A>G (p.Lys755Arg)
c.2675A>G (p.Lys892Arg)
c.*2317A>G (n.*2317A>G)
n.2700A>G
c.131A>G (p.Lys44Arg)
c.2597A>G (p.Lys866Arg)
c.655+2612A>G (n.655+2612A>G)
c.1168-659A>G (n.1168-659A>G)
c.2528A>G (p.Lys843Arg)
c.2591A>G (p.Lys864Arg)
c.2579A>G (p.Lys860Arg)
2g.144398587T>GCA348707814ZEB2c.*2449A>C (n.*2449A>C)
c.1823A>C (p.Lys608Thr)
c.2600A>C (p.Lys867Thr)
n.2569A>C
c.2264A>C (p.Lys755Thr)
c.2675A>C (p.Lys892Thr)
c.*2317A>C (n.*2317A>C)
n.2700A>C
c.131A>C (p.Lys44Thr)
c.2597A>C (p.Lys866Thr)
c.655+2612A>C (n.655+2612A>C)
c.1168-659A>C (n.1168-659A>C)
c.2528A>C (p.Lys843Thr)
c.2591A>C (p.Lys864Thr)
c.2579A>C (p.Lys860Thr)
2g.144398588T>ACA348707817ZEB2c.*2448A>T (n.*2448A>T)
c.1822A>T (p.Lys608Ter)
c.2599A>T (p.Lys867Ter)
n.2568A>T
c.2263A>T (p.Lys755Ter)
c.2674A>T (p.Lys892Ter)
c.*2316A>T (n.*2316A>T)
n.2699A>T
c.130A>T (p.Lys44Ter)
c.2596A>T (p.Lys866Ter)
c.655+2611A>T (n.655+2611A>T)
c.1168-660A>T (n.1168-660A>T)
c.2527A>T (p.Lys843Ter)
c.2590A>T (p.Lys864Ter)
c.2578A>T (p.Lys860Ter)
2g.144398588T>CCA348707819ZEB2c.*2448A>G (n.*2448A>G)
c.1822A>G (p.Lys608Glu)
c.2599A>G (p.Lys867Glu)
n.2568A>G
c.2263A>G (p.Lys755Glu)
c.2674A>G (p.Lys892Glu)
c.*2316A>G (n.*2316A>G)
n.2699A>G
c.130A>G (p.Lys44Glu)
c.2596A>G (p.Lys866Glu)
c.655+2611A>G (n.655+2611A>G)
c.1168-660A>G (n.1168-660A>G)
c.2527A>G (p.Lys843Glu)
c.2590A>G (p.Lys864Glu)
c.2578A>G (p.Lys860Glu)
2g.144398588T>GCA348707820ZEB2c.*2448A>C (n.*2448A>C)
c.1822A>C (p.Lys608Gln)
c.2599A>C (p.Lys867Gln)
n.2568A>C
c.2263A>C (p.Lys755Gln)
c.2674A>C (p.Lys892Gln)
c.*2316A>C (n.*2316A>C)
n.2699A>C
c.130A>C (p.Lys44Gln)
c.2596A>C (p.Lys866Gln)
c.655+2611A>C (n.655+2611A>C)
c.1168-660A>C (n.1168-660A>C)
c.2527A>C (p.Lys843Gln)
c.2590A>C (p.Lys864Gln)
c.2578A>C (p.Lys860Gln)
2g.144398589C>ACA348707822ZEB2c.*2447G>T (n.*2447G>T)
c.1821G>T (p.Lys607Asn)
c.2598G>T (p.Lys866Asn)
n.2567G>T
c.2262G>T (p.Lys754Asn)
c.2673G>T (p.Lys891Asn)
c.*2315G>T (n.*2315G>T)
n.2698G>T
c.129G>T (p.Lys43Asn)
c.2595G>T (p.Lys865Asn)
c.655+2610G>T (n.655+2610G>T)
c.1168-661G>T (n.1168-661G>T)
c.2526G>T (p.Lys842Asn)
c.2589G>T (p.Lys863Asn)
c.2577G>T (p.Lys859Asn)
2g.144398589C>GCA348707823ZEB2c.*2447G>C (n.*2447G>C)
c.1821G>C (p.Lys607Asn)
c.2598G>C (p.Lys866Asn)
n.2567G>C
c.2262G>C (p.Lys754Asn)
c.2673G>C (p.Lys891Asn)
c.*2315G>C (n.*2315G>C)
n.2698G>C
c.129G>C (p.Lys43Asn)
c.2595G>C (p.Lys865Asn)
c.655+2610G>C (n.655+2610G>C)
c.1168-661G>C (n.1168-661G>C)
c.2526G>C (p.Lys842Asn)
c.2589G>C (p.Lys863Asn)
c.2577G>C (p.Lys859Asn)
 COSMIC
2g.144398589C>TCA429445280ZEB2c.*2447G>A (n.*2447G>A)
c.1821G>A (p.Lys607=)
c.2598G>A (p.Lys866=)
n.2567G>A
c.2262G>A (p.Lys754=)
c.2673G>A (p.Lys891=)
c.*2315G>A (n.*2315G>A)
n.2698G>A
c.129G>A (p.Lys43=)
c.2595G>A (p.Lys865=)
c.655+2610G>A (n.655+2610G>A)
c.1168-661G>A (n.1168-661G>A)
c.2526G>A (p.Lys842=)
c.2589G>A (p.Lys863=)
c.2577G>A (p.Lys859=)
2g.144398590T>ACA348707826ZEB2c.*2446A>T (n.*2446A>T)
c.1820A>T (p.Lys607Met)
c.2597A>T (p.Lys866Met)
n.2566A>T
c.2261A>T (p.Lys754Met)
c.2672A>T (p.Lys891Met)
c.*2314A>T (n.*2314A>T)
n.2697A>T
c.128A>T (p.Lys43Met)
c.2594A>T (p.Lys865Met)
c.655+2609A>T (n.655+2609A>T)
c.1168-662A>T (n.1168-662A>T)
c.2525A>T (p.Lys842Met)
c.2588A>T (p.Lys863Met)
c.2576A>T (p.Lys859Met)
 ClinVar dbSNP
2g.144398590T>CCA348707828ZEB2c.*2446A>G (n.*2446A>G)
c.1820A>G (p.Lys607Arg)
c.2597A>G (p.Lys866Arg)
n.2566A>G
c.2261A>G (p.Lys754Arg)
c.2672A>G (p.Lys891Arg)
c.*2314A>G (n.*2314A>G)
n.2697A>G
c.128A>G (p.Lys43Arg)
c.2594A>G (p.Lys865Arg)
c.655+2609A>G (n.655+2609A>G)
c.1168-662A>G (n.1168-662A>G)
c.2525A>G (p.Lys842Arg)
c.2588A>G (p.Lys863Arg)
c.2576A>G (p.Lys859Arg)
2g.144398590T>GCA348707829ZEB2c.*2446A>C (n.*2446A>C)
c.1820A>C (p.Lys607Thr)
c.2597A>C (p.Lys866Thr)
n.2566A>C
c.2261A>C (p.Lys754Thr)
c.2672A>C (p.Lys891Thr)
c.*2314A>C (n.*2314A>C)
n.2697A>C
c.128A>C (p.Lys43Thr)
c.2594A>C (p.Lys865Thr)
c.655+2609A>C (n.655+2609A>C)
c.1168-662A>C (n.1168-662A>C)
c.2525A>C (p.Lys842Thr)
c.2588A>C (p.Lys863Thr)
c.2576A>C (p.Lys859Thr)
2g.144398591T>ACA348707831ZEB2c.*2445A>T (n.*2445A>T)
c.1819A>T (p.Lys607Ter)
c.2596A>T (p.Lys866Ter)
n.2565A>T
c.2260A>T (p.Lys754Ter)
c.2671A>T (p.Lys891Ter)
c.*2313A>T (n.*2313A>T)
n.2696A>T
c.127A>T (p.Lys43Ter)
c.2593A>T (p.Lys865Ter)
c.655+2608A>T (n.655+2608A>T)
c.1168-663A>T (n.1168-663A>T)
c.2524A>T (p.Lys842Ter)
c.2587A>T (p.Lys863Ter)
c.2575A>T (p.Lys859Ter)
2g.144398591T>CCA348707833ZEB2c.*2445A>G (n.*2445A>G)
c.1819A>G (p.Lys607Glu)
c.2596A>G (p.Lys866Glu)
n.2565A>G
c.2260A>G (p.Lys754Glu)
c.2671A>G (p.Lys891Glu)
c.*2313A>G (n.*2313A>G)
n.2696A>G
c.127A>G (p.Lys43Glu)
c.2593A>G (p.Lys865Glu)
c.655+2608A>G (n.655+2608A>G)
c.1168-663A>G (n.1168-663A>G)
c.2524A>G (p.Lys842Glu)
c.2587A>G (p.Lys863Glu)
c.2575A>G (p.Lys859Glu)
2g.144398591T>GCA348707835ZEB2c.*2445A>C (n.*2445A>C)
c.1819A>C (p.Lys607Gln)
c.2596A>C (p.Lys866Gln)
n.2565A>C
c.2260A>C (p.Lys754Gln)
c.2671A>C (p.Lys891Gln)
c.*2313A>C (n.*2313A>C)
n.2696A>C
c.127A>C (p.Lys43Gln)
c.2593A>C (p.Lys865Gln)
c.655+2608A>C (n.655+2608A>C)
c.1168-663A>C (n.1168-663A>C)
c.2524A>C (p.Lys842Gln)
c.2587A>C (p.Lys863Gln)
c.2575A>C (p.Lys859Gln)
2g.144398592G>ACA429445282ZEB2c.*2444C>T (n.*2444C>T)
c.1818C>T (p.Ile606=)
c.2595C>T (p.Ile865=)
n.2564C>T
c.2259C>T (p.Ile753=)
c.2670C>T (p.Ile890=)
c.*2312C>T (n.*2312C>T)
n.2695C>T
c.126C>T (p.Ile42=)
c.2592C>T (p.Ile864=)
c.655+2607C>T (n.655+2607C>T)
c.1168-664C>T (n.1168-664C>T)
c.2523C>T (p.Ile841=)
c.2586C>T (p.Ile862=)
c.2574C>T (p.Ile858=)
 dbSNP gnomAD v2 gnomAD v4
2g.144398592G>CCA348707836ZEB2c.*2444C>G (n.*2444C>G)
c.1818C>G (p.Ile606Met)
c.2595C>G (p.Ile865Met)
n.2564C>G
c.2259C>G (p.Ile753Met)
c.2670C>G (p.Ile890Met)
c.*2312C>G (n.*2312C>G)
n.2695C>G
c.126C>G (p.Ile42Met)
c.2592C>G (p.Ile864Met)
c.655+2607C>G (n.655+2607C>G)
c.1168-664C>G (n.1168-664C>G)
c.2523C>G (p.Ile841Met)
c.2586C>G (p.Ile862Met)
c.2574C>G (p.Ile858Met)
2g.144398592G=CA1294884959ZEB2c.*2444C= (n.*2444C=)
c.1818C= (p.Ile606=)
c.2595C= (p.Ile865=)
n.2564C=
c.2259C= (p.Ile753=)
c.2670C= (p.Ile890=)
c.*2312C= (n.*2312C=)
n.2695C=
c.126C= (p.Ile42=)
c.2592C= (p.Ile864=)
c.655+2607C= (n.655+2607C=)
c.1168-664C= (n.1168-664C=)
c.2523C= (p.Ile841=)
c.2586C= (p.Ile862=)
c.2574C= (p.Ile858=)
2g.144398592G>TCA429445287ZEB2c.*2444C>A (n.*2444C>A)
c.1818C>A (p.Ile606=)
c.2595C>A (p.Ile865=)
n.2564C>A
c.2259C>A (p.Ile753=)
c.2670C>A (p.Ile890=)
c.*2312C>A (n.*2312C>A)
n.2695C>A
c.126C>A (p.Ile42=)
c.2592C>A (p.Ile864=)
c.655+2607C>A (n.655+2607C>A)
c.1168-664C>A (n.1168-664C>A)
c.2523C>A (p.Ile841=)
c.2586C>A (p.Ile862=)
c.2574C>A (p.Ile858=)
2g.144398593A>CCA348707838ZEB2c.*2443T>G (n.*2443T>G)
c.1817T>G (p.Ile606Ser)
c.2594T>G (p.Ile865Ser)
n.2563T>G
c.2258T>G (p.Ile753Ser)
c.2669T>G (p.Ile890Ser)
c.*2311T>G (n.*2311T>G)
n.2694T>G
c.125T>G (p.Ile42Ser)
c.2591T>G (p.Ile864Ser)
c.655+2606T>G (n.655+2606T>G)
c.1168-665T>G (n.1168-665T>G)
c.2522T>G (p.Ile841Ser)
c.2585T>G (p.Ile862Ser)
c.2573T>G (p.Ile858Ser)
2g.144398593A>GCA348707839ZEB2c.*2443T>C (n.*2443T>C)
c.1817T>C (p.Ile606Thr)
c.2594T>C (p.Ile865Thr)
n.2563T>C
c.2258T>C (p.Ile753Thr)
c.2669T>C (p.Ile890Thr)
c.*2311T>C (n.*2311T>C)
n.2694T>C
c.125T>C (p.Ile42Thr)
c.2591T>C (p.Ile864Thr)
c.655+2606T>C (n.655+2606T>C)
c.1168-665T>C (n.1168-665T>C)
c.2522T>C (p.Ile841Thr)
c.2585T>C (p.Ile862Thr)
c.2573T>C (p.Ile858Thr)
 COSMIC
2g.144398593A>TCA348707841ZEB2c.*2443T>A (n.*2443T>A)
c.1817T>A (p.Ile606Asn)
c.2594T>A (p.Ile865Asn)
n.2563T>A
c.2258T>A (p.Ile753Asn)
c.2669T>A (p.Ile890Asn)
c.*2311T>A (n.*2311T>A)
n.2694T>A
c.125T>A (p.Ile42Asn)
c.2591T>A (p.Ile864Asn)
c.655+2606T>A (n.655+2606T>A)
c.1168-665T>A (n.1168-665T>A)
c.2522T>A (p.Ile841Asn)
c.2585T>A (p.Ile862Asn)
c.2573T>A (p.Ile858Asn)
2g.144398594T>ACA348707843ZEB2c.*2442A>T (n.*2442A>T)
c.1816A>T (p.Ile606Phe)
c.2593A>T (p.Ile865Phe)
n.2562A>T
c.2257A>T (p.Ile753Phe)
c.2668A>T (p.Ile890Phe)
c.*2310A>T (n.*2310A>T)
n.2693A>T
c.124A>T (p.Ile42Phe)
c.2590A>T (p.Ile864Phe)
c.655+2605A>T (n.655+2605A>T)
c.1168-666A>T (n.1168-666A>T)
c.2521A>T (p.Ile841Phe)
c.2584A>T (p.Ile862Phe)
c.2572A>T (p.Ile858Phe)
2g.144398594T>CCA348707845ZEB2c.*2442A>G (n.*2442A>G)
c.1816A>G (p.Ile606Val)
c.2593A>G (p.Ile865Val)
n.2562A>G
c.2257A>G (p.Ile753Val)
c.2668A>G (p.Ile890Val)
c.*2310A>G (n.*2310A>G)
n.2693A>G
c.124A>G (p.Ile42Val)
c.2590A>G (p.Ile864Val)
c.655+2605A>G (n.655+2605A>G)
c.1168-666A>G (n.1168-666A>G)
c.2521A>G (p.Ile841Val)
c.2584A>G (p.Ile862Val)
c.2572A>G (p.Ile858Val)
2g.144398594T>GCA348707846ZEB2c.*2442A>C (n.*2442A>C)
c.1816A>C (p.Ile606Leu)
c.2593A>C (p.Ile865Leu)
n.2562A>C
c.2257A>C (p.Ile753Leu)
c.2668A>C (p.Ile890Leu)
c.*2310A>C (n.*2310A>C)
n.2693A>C
c.124A>C (p.Ile42Leu)
c.2590A>C (p.Ile864Leu)
c.655+2605A>C (n.655+2605A>C)
c.1168-666A>C (n.1168-666A>C)
c.2521A>C (p.Ile841Leu)
c.2584A>C (p.Ile862Leu)
c.2572A>C (p.Ile858Leu)
2g.144398595A>CCA348707848ZEB2c.*2441T>G (n.*2441T>G)
c.1815T>G (p.Phe605Leu)
c.2592T>G (p.Phe864Leu)
n.2561T>G
c.2256T>G (p.Phe752Leu)
c.2667T>G (p.Phe889Leu)
c.*2309T>G (n.*2309T>G)
n.2692T>G
c.123T>G (p.Phe41Leu)
c.2589T>G (p.Phe863Leu)
c.655+2604T>G (n.655+2604T>G)
c.1168-667T>G (n.1168-667T>G)
c.2520T>G (p.Phe840Leu)
c.2583T>G (p.Phe861Leu)
c.2571T>G (p.Phe857Leu)
2g.144398595A>GCA429445564ZEB2c.*2441T>C (n.*2441T>C)
c.1815T>C (p.Phe605=)
c.2592T>C (p.Phe864=)
n.2561T>C
c.2256T>C (p.Phe752=)
c.2667T>C (p.Phe889=)
c.*2309T>C (n.*2309T>C)
n.2692T>C
c.123T>C (p.Phe41=)
c.2589T>C (p.Phe863=)
c.655+2604T>C (n.655+2604T>C)
c.1168-667T>C (n.1168-667T>C)
c.2520T>C (p.Phe840=)
c.2583T>C (p.Phe861=)
c.2571T>C (p.Phe857=)
2g.144398595A>TCA348707850ZEB2c.*2441T>A (n.*2441T>A)
c.1815T>A (p.Phe605Leu)
c.2592T>A (p.Phe864Leu)
n.2561T>A
c.2256T>A (p.Phe752Leu)
c.2667T>A (p.Phe889Leu)
c.*2309T>A (n.*2309T>A)
n.2692T>A
c.123T>A (p.Phe41Leu)
c.2589T>A (p.Phe863Leu)
c.655+2604T>A (n.655+2604T>A)
c.1168-667T>A (n.1168-667T>A)
c.2520T>A (p.Phe840Leu)
c.2583T>A (p.Phe861Leu)
c.2571T>A (p.Phe857Leu)
 COSMIC
2g.144398598delCA2499214971ZEB2c.*2441del (n.*2441del)
c.1815del (p.Phe605LeufsTer23)
c.2592del (p.Phe864LeufsTer23)
n.2561del
c.2256del (p.Phe752LeufsTer23)
c.2667del (p.Phe889LeufsTer23)
c.*2309del (n.*2309del)
n.2692del
c.123del (p.Phe41LeufsTer23)
c.2589del (p.Phe863LeufsTer23)
c.655+2604del (n.655+2604del)
c.1168-667del (n.1168-667del)
c.2520del (p.Phe840LeufsTer23)
c.2583del (p.Phe861LeufsTer23)
c.2571del (p.Phe857LeufsTer23)
 ClinVar dbSNP
2g.144398596A>CCA348707852ZEB2c.*2440T>G (n.*2440T>G)
c.1814T>G (p.Phe605Cys)
c.2591T>G (p.Phe864Cys)
n.2560T>G
c.2255T>G (p.Phe752Cys)
c.2666T>G (p.Phe889Cys)
c.*2308T>G (n.*2308T>G)
n.2691T>G
c.122T>G (p.Phe41Cys)
c.2588T>G (p.Phe863Cys)
c.655+2603T>G (n.655+2603T>G)
c.1168-668T>G (n.1168-668T>G)
c.2519T>G (p.Phe840Cys)
c.2582T>G (p.Phe861Cys)
c.2570T>G (p.Phe857Cys)
 COSMIC
2g.144398596A>GCA348707854ZEB2c.*2440T>C (n.*2440T>C)
c.1814T>C (p.Phe605Ser)
c.2591T>C (p.Phe864Ser)
n.2560T>C
c.2255T>C (p.Phe752Ser)
c.2666T>C (p.Phe889Ser)
c.*2308T>C (n.*2308T>C)
n.2691T>C
c.122T>C (p.Phe41Ser)
c.2588T>C (p.Phe863Ser)
c.655+2603T>C (n.655+2603T>C)
c.1168-668T>C (n.1168-668T>C)
c.2519T>C (p.Phe840Ser)
c.2582T>C (p.Phe861Ser)
c.2570T>C (p.Phe857Ser)
2g.144398596A>TCA348707855ZEB2c.*2440T>A (n.*2440T>A)
c.1814T>A (p.Phe605Tyr)
c.2591T>A (p.Phe864Tyr)
n.2560T>A
c.2255T>A (p.Phe752Tyr)
c.2666T>A (p.Phe889Tyr)
c.*2308T>A (n.*2308T>A)
n.2691T>A
c.122T>A (p.Phe41Tyr)
c.2588T>A (p.Phe863Tyr)
c.655+2603T>A (n.655+2603T>A)
c.1168-668T>A (n.1168-668T>A)
c.2519T>A (p.Phe840Tyr)
c.2582T>A (p.Phe861Tyr)
c.2570T>A (p.Phe857Tyr)
2g.144398597A>CCA348707858ZEB2c.*2439T>G (n.*2439T>G)
c.1813T>G (p.Phe605Val)
c.2590T>G (p.Phe864Val)
n.2559T>G
c.2254T>G (p.Phe752Val)
c.2665T>G (p.Phe889Val)
c.*2307T>G (n.*2307T>G)
n.2690T>G
c.121T>G (p.Phe41Val)
c.2587T>G (p.Phe863Val)
c.655+2602T>G (n.655+2602T>G)
c.1168-669T>G (n.1168-669T>G)
c.2518T>G (p.Phe840Val)
c.2581T>G (p.Phe861Val)
c.2569T>G (p.Phe857Val)
2g.144398597A>GCA348707859ZEB2c.*2439T>C (n.*2439T>C)
c.1813T>C (p.Phe605Leu)
c.2590T>C (p.Phe864Leu)
n.2559T>C
c.2254T>C (p.Phe752Leu)
c.2665T>C (p.Phe889Leu)
c.*2307T>C (n.*2307T>C)
n.2690T>C
c.121T>C (p.Phe41Leu)
c.2587T>C (p.Phe863Leu)
c.655+2602T>C (n.655+2602T>C)
c.1168-669T>C (n.1168-669T>C)
c.2518T>C (p.Phe840Leu)
c.2581T>C (p.Phe861Leu)
c.2569T>C (p.Phe857Leu)
2g.144398597A>TCA348707861ZEB2c.*2439T>A (n.*2439T>A)
c.1813T>A (p.Phe605Ile)
c.2590T>A (p.Phe864Ile)
n.2559T>A
c.2254T>A (p.Phe752Ile)
c.2665T>A (p.Phe889Ile)
c.*2307T>A (n.*2307T>A)
n.2690T>A
c.121T>A (p.Phe41Ile)
c.2587T>A (p.Phe863Ile)
c.655+2602T>A (n.655+2602T>A)
c.1168-669T>A (n.1168-669T>A)
c.2518T>A (p.Phe840Ile)
c.2581T>A (p.Phe861Ile)
c.2569T>A (p.Phe857Ile)
2g.144398598A=CA1294884960ZEB2c.*2438T= (n.*2438T=)
c.1812T= (p.Thr604=)
c.2589T= (p.Thr863=)
n.2558T=
c.2253T= (p.Thr751=)
c.2664T= (p.Thr888=)
c.*2306T= (n.*2306T=)
n.2689T=
c.120T= (p.Thr40=)
c.2586T= (p.Thr862=)
c.655+2601T= (n.655+2601T=)
c.1168-670T= (n.1168-670T=)
c.2517T= (p.Thr839=)
c.2580T= (p.Thr860=)
c.2568T= (p.Thr856=)
2g.144398598A>CCA429445568ZEB2c.*2438T>G (n.*2438T>G)
c.1812T>G (p.Thr604=)
c.2589T>G (p.Thr863=)
n.2558T>G
c.2253T>G (p.Thr751=)
c.2664T>G (p.Thr888=)
c.*2306T>G (n.*2306T>G)
n.2689T>G
c.120T>G (p.Thr40=)
c.2586T>G (p.Thr862=)
c.655+2601T>G (n.655+2601T>G)
c.1168-670T>G (n.1168-670T>G)
c.2517T>G (p.Thr839=)
c.2580T>G (p.Thr860=)
c.2568T>G (p.Thr856=)
2g.144398598A>GCA57554934ZEB2c.*2438T>C (n.*2438T>C)
c.1812T>C (p.Thr604=)
c.2589T>C (p.Thr863=)
n.2558T>C
c.2253T>C (p.Thr751=)
c.2664T>C (p.Thr888=)
c.*2306T>C (n.*2306T>C)
n.2689T>C
c.120T>C (p.Thr40=)
c.2586T>C (p.Thr862=)
c.655+2601T>C (n.655+2601T>C)
c.1168-670T>C (n.1168-670T>C)
c.2517T>C (p.Thr839=)
c.2580T>C (p.Thr860=)
c.2568T>C (p.Thr856=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144398598A>TCA429445569ZEB2c.*2438T>A (n.*2438T>A)
c.1812T>A (p.Thr604=)
c.2589T>A (p.Thr863=)
n.2558T>A
c.2253T>A (p.Thr751=)
c.2664T>A (p.Thr888=)
c.*2306T>A (n.*2306T>A)
n.2689T>A
c.120T>A (p.Thr40=)
c.2586T>A (p.Thr862=)
c.655+2601T>A (n.655+2601T>A)
c.1168-670T>A (n.1168-670T>A)
c.2517T>A (p.Thr839=)
c.2580T>A (p.Thr860=)
c.2568T>A (p.Thr856=)
2g.144398599G>ACA348707862ZEB2c.*2437C>T (n.*2437C>T)
c.1811C>T (p.Thr604Ile)
c.2588C>T (p.Thr863Ile)
n.2557C>T
c.2252C>T (p.Thr751Ile)
c.2663C>T (p.Thr888Ile)
c.*2305C>T (n.*2305C>T)
n.2688C>T
c.119C>T (p.Thr40Ile)
c.2585C>T (p.Thr862Ile)
c.655+2600C>T (n.655+2600C>T)
c.1168-671C>T (n.1168-671C>T)
c.2516C>T (p.Thr839Ile)
c.2579C>T (p.Thr860Ile)
c.2567C>T (p.Thr856Ile)
 gnomAD v4
2g.144398599G>CCA348707864ZEB2c.*2437C>G (n.*2437C>G)
c.1811C>G (p.Thr604Ser)
c.2588C>G (p.Thr863Ser)
n.2557C>G
c.2252C>G (p.Thr751Ser)
c.2663C>G (p.Thr888Ser)
c.*2305C>G (n.*2305C>G)
n.2688C>G
c.119C>G (p.Thr40Ser)
c.2585C>G (p.Thr862Ser)
c.655+2600C>G (n.655+2600C>G)
c.1168-671C>G (n.1168-671C>G)
c.2516C>G (p.Thr839Ser)
c.2579C>G (p.Thr860Ser)
c.2567C>G (p.Thr856Ser)
2g.144398599G>TCA348707866ZEB2c.*2437C>A (n.*2437C>A)
c.1811C>A (p.Thr604Asn)
c.2588C>A (p.Thr863Asn)
n.2557C>A
c.2252C>A (p.Thr751Asn)
c.2663C>A (p.Thr888Asn)
c.*2305C>A (n.*2305C>A)
n.2688C>A
c.119C>A (p.Thr40Asn)
c.2585C>A (p.Thr862Asn)
c.655+2600C>A (n.655+2600C>A)
c.1168-671C>A (n.1168-671C>A)
c.2516C>A (p.Thr839Asn)
c.2579C>A (p.Thr860Asn)
c.2567C>A (p.Thr856Asn)
2g.144398600T>ACA348707868ZEB2c.*2436A>T (n.*2436A>T)
c.1810A>T (p.Thr604Ser)
c.2587A>T (p.Thr863Ser)
n.2556A>T
c.2251A>T (p.Thr751Ser)
c.2662A>T (p.Thr888Ser)
c.*2304A>T (n.*2304A>T)
n.2687A>T
c.118A>T (p.Thr40Ser)
c.2584A>T (p.Thr862Ser)
c.655+2599A>T (n.655+2599A>T)
c.1168-672A>T (n.1168-672A>T)
c.2515A>T (p.Thr839Ser)
c.2578A>T (p.Thr860Ser)
c.2566A>T (p.Thr856Ser)
2g.144398600T>CCA348707869ZEB2c.*2436A>G (n.*2436A>G)
c.1810A>G (p.Thr604Ala)
c.2587A>G (p.Thr863Ala)
n.2556A>G
c.2251A>G (p.Thr751Ala)
c.2662A>G (p.Thr888Ala)
c.*2304A>G (n.*2304A>G)
n.2687A>G
c.118A>G (p.Thr40Ala)
c.2584A>G (p.Thr862Ala)
c.655+2599A>G (n.655+2599A>G)
c.1168-672A>G (n.1168-672A>G)
c.2515A>G (p.Thr839Ala)
c.2578A>G (p.Thr860Ala)
c.2566A>G (p.Thr856Ala)
2g.144398600T>GCA348707871ZEB2c.*2436A>C (n.*2436A>C)
c.1810A>C (p.Thr604Pro)
c.2587A>C (p.Thr863Pro)
n.2556A>C
c.2251A>C (p.Thr751Pro)
c.2662A>C (p.Thr888Pro)
c.*2304A>C (n.*2304A>C)
n.2687A>C
c.118A>C (p.Thr40Pro)
c.2584A>C (p.Thr862Pro)
c.655+2599A>C (n.655+2599A>C)
c.1168-672A>C (n.1168-672A>C)
c.2515A>C (p.Thr839Pro)
c.2578A>C (p.Thr860Pro)
c.2566A>C (p.Thr856Pro)
2g.144398601C>ACA348707874ZEB2c.*2435G>T (n.*2435G>T)
c.1809G>T (p.Leu603Phe)
c.2586G>T (p.Leu862Phe)
n.2555G>T
c.2250G>T (p.Leu750Phe)
c.2661G>T (p.Leu887Phe)
c.*2303G>T (n.*2303G>T)
n.2686G>T
c.117G>T (p.Leu39Phe)
c.2583G>T (p.Leu861Phe)
c.655+2598G>T (n.655+2598G>T)
c.1168-673G>T (n.1168-673G>T)
c.2514G>T (p.Leu838Phe)
c.2577G>T (p.Leu859Phe)
c.2565G>T (p.Leu855Phe)
 gnomAD v4
2g.144398601C=CA1294884961ZEB2c.*2435G= (n.*2435G=)
c.1809G= (p.Leu603=)
c.2586G= (p.Leu862=)
n.2555G=
c.2250G= (p.Leu750=)
c.2661G= (p.Leu887=)
c.*2303G= (n.*2303G=)
n.2686G=
c.117G= (p.Leu39=)
c.2583G= (p.Leu861=)
c.655+2598G= (n.655+2598G=)
c.1168-673G= (n.1168-673G=)
c.2514G= (p.Leu838=)
c.2577G= (p.Leu859=)
c.2565G= (p.Leu855=)
2g.144398601C>GCA348707875ZEB2c.*2435G>C (n.*2435G>C)
c.1809G>C (p.Leu603Phe)
c.2586G>C (p.Leu862Phe)
n.2555G>C
c.2250G>C (p.Leu750Phe)
c.2661G>C (p.Leu887Phe)
c.*2303G>C (n.*2303G>C)
n.2686G>C
c.117G>C (p.Leu39Phe)
c.2583G>C (p.Leu861Phe)
c.655+2598G>C (n.655+2598G>C)
c.1168-673G>C (n.1168-673G>C)
c.2514G>C (p.Leu838Phe)
c.2577G>C (p.Leu859Phe)
c.2565G>C (p.Leu855Phe)
 gnomAD v4
2g.144398601C>TCA429445574ZEB2c.*2435G>A (n.*2435G>A)
c.1809G>A (p.Leu603=)
c.2586G>A (p.Leu862=)
n.2555G>A
c.2250G>A (p.Leu750=)
c.2661G>A (p.Leu887=)
c.*2303G>A (n.*2303G>A)
n.2686G>A
c.117G>A (p.Leu39=)
c.2583G>A (p.Leu861=)
c.655+2598G>A (n.655+2598G>A)
c.1168-673G>A (n.1168-673G>A)
c.2514G>A (p.Leu838=)
c.2577G>A (p.Leu859=)
c.2565G>A (p.Leu855=)
 dbSNP
2g.144398602A>CCA348707878ZEB2c.*2434T>G (n.*2434T>G)
c.1808T>G (p.Leu603Trp)
c.2585T>G (p.Leu862Trp)
n.2554T>G
c.2249T>G (p.Leu750Trp)
c.2660T>G (p.Leu887Trp)
c.*2302T>G (n.*2302T>G)
n.2685T>G
c.116T>G (p.Leu39Trp)
c.2582T>G (p.Leu861Trp)
c.655+2597T>G (n.655+2597T>G)
c.1168-674T>G (n.1168-674T>G)
c.2513T>G (p.Leu838Trp)
c.2576T>G (p.Leu859Trp)
c.2564T>G (p.Leu855Trp)
2g.144398602A>GCA348707879ZEB2c.*2434T>C (n.*2434T>C)
c.1808T>C (p.Leu603Ser)
c.2585T>C (p.Leu862Ser)
n.2554T>C
c.2249T>C (p.Leu750Ser)
c.2660T>C (p.Leu887Ser)
c.*2302T>C (n.*2302T>C)
n.2685T>C
c.116T>C (p.Leu39Ser)
c.2582T>C (p.Leu861Ser)
c.655+2597T>C (n.655+2597T>C)
c.1168-674T>C (n.1168-674T>C)
c.2513T>C (p.Leu838Ser)
c.2576T>C (p.Leu859Ser)
c.2564T>C (p.Leu855Ser)
2g.144398602A>TCA348707881ZEB2c.*2434T>A (n.*2434T>A)
c.1808T>A (p.Leu603Ter)
c.2585T>A (p.Leu862Ter)
n.2554T>A
c.2249T>A (p.Leu750Ter)
c.2660T>A (p.Leu887Ter)
c.*2302T>A (n.*2302T>A)
n.2685T>A
c.116T>A (p.Leu39Ter)
c.2582T>A (p.Leu861Ter)
c.655+2597T>A (n.655+2597T>A)
c.1168-674T>A (n.1168-674T>A)
c.2513T>A (p.Leu838Ter)
c.2576T>A (p.Leu859Ter)
c.2564T>A (p.Leu855Ter)
 COSMIC
2g.144398603A>CCA348707882ZEB2c.*2433T>G (n.*2433T>G)
c.1807T>G (p.Leu603Val)
c.2584T>G (p.Leu862Val)
n.2553T>G
c.2248T>G (p.Leu750Val)
c.2659T>G (p.Leu887Val)
c.*2301T>G (n.*2301T>G)
n.2684T>G
c.115T>G (p.Leu39Val)
c.2581T>G (p.Leu861Val)
c.655+2596T>G (n.655+2596T>G)
c.1168-675T>G (n.1168-675T>G)
c.2512T>G (p.Leu838Val)
c.2575T>G (p.Leu859Val)
c.2563T>G (p.Leu855Val)
 COSMIC
2g.144398603A>GCA429445580ZEB2c.*2433T>C (n.*2433T>C)
c.1807T>C (p.Leu603=)
c.2584T>C (p.Leu862=)
n.2553T>C
c.2248T>C (p.Leu750=)
c.2659T>C (p.Leu887=)
c.*2301T>C (n.*2301T>C)
n.2684T>C
c.115T>C (p.Leu39=)
c.2581T>C (p.Leu861=)
c.655+2596T>C (n.655+2596T>C)
c.1168-675T>C (n.1168-675T>C)
c.2512T>C (p.Leu838=)
c.2575T>C (p.Leu859=)
c.2563T>C (p.Leu855=)
 COSMIC
2g.144398603A>TCA348707884ZEB2c.*2433T>A (n.*2433T>A)
c.1807T>A (p.Leu603Met)
c.2584T>A (p.Leu862Met)
n.2553T>A
c.2248T>A (p.Leu750Met)
c.2659T>A (p.Leu887Met)
c.*2301T>A (n.*2301T>A)
n.2684T>A
c.115T>A (p.Leu39Met)
c.2581T>A (p.Leu861Met)
c.655+2596T>A (n.655+2596T>A)
c.1168-675T>A (n.1168-675T>A)
c.2512T>A (p.Leu838Met)
c.2575T>A (p.Leu859Met)
c.2563T>A (p.Leu855Met)
 gnomAD v4
2g.144398604G>ACA429445582ZEB2c.*2432C>T (n.*2432C>T)
c.1806C>T (p.Asn602=)
c.2583C>T (p.Asn861=)
n.2552C>T
c.2247C>T (p.Asn749=)
c.2658C>T (p.Asn886=)
c.*2300C>T (n.*2300C>T)
n.2683C>T
c.114C>T (p.Asn38=)
c.2580C>T (p.Asn860=)
c.655+2595C>T (n.655+2595C>T)
c.1168-676C>T (n.1168-676C>T)
c.2511C>T (p.Asn837=)
c.2574C>T (p.Asn858=)
c.2562C>T (p.Asn854=)
2g.144398604G>CCA348707886ZEB2c.*2432C>G (n.*2432C>G)
c.1806C>G (p.Asn602Lys)
c.2583C>G (p.Asn861Lys)
n.2552C>G
c.2247C>G (p.Asn749Lys)
c.2658C>G (p.Asn886Lys)
c.*2300C>G (n.*2300C>G)
n.2683C>G
c.114C>G (p.Asn38Lys)
c.2580C>G (p.Asn860Lys)
c.655+2595C>G (n.655+2595C>G)
c.1168-676C>G (n.1168-676C>G)
c.2511C>G (p.Asn837Lys)
c.2574C>G (p.Asn858Lys)
c.2562C>G (p.Asn854Lys)
2g.144398604G>TCA348707887ZEB2c.*2432C>A (n.*2432C>A)
c.1806C>A (p.Asn602Lys)
c.2583C>A (p.Asn861Lys)
n.2552C>A
c.2247C>A (p.Asn749Lys)
c.2658C>A (p.Asn886Lys)
c.*2300C>A (n.*2300C>A)
n.2683C>A
c.114C>A (p.Asn38Lys)
c.2580C>A (p.Asn860Lys)
c.655+2595C>A (n.655+2595C>A)
c.1168-676C>A (n.1168-676C>A)
c.2511C>A (p.Asn837Lys)
c.2574C>A (p.Asn858Lys)
c.2562C>A (p.Asn854Lys)
2g.144398605T>ACA348707890ZEB2c.*2431A>T (n.*2431A>T)
c.1805A>T (p.Asn602Ile)
c.2582A>T (p.Asn861Ile)
n.2551A>T
c.2246A>T (p.Asn749Ile)
c.2657A>T (p.Asn886Ile)
c.*2299A>T (n.*2299A>T)
n.2682A>T
c.113A>T (p.Asn38Ile)
c.2579A>T (p.Asn860Ile)
c.655+2594A>T (n.655+2594A>T)
c.1168-677A>T (n.1168-677A>T)
c.2510A>T (p.Asn837Ile)
c.2573A>T (p.Asn858Ile)
c.2561A>T (p.Asn854Ile)
2g.144398605T>CCA348707891ZEB2c.*2431A>G (n.*2431A>G)
c.1805A>G (p.Asn602Ser)
c.2582A>G (p.Asn861Ser)
n.2551A>G
c.2246A>G (p.Asn749Ser)
c.2657A>G (p.Asn886Ser)
c.*2299A>G (n.*2299A>G)
n.2682A>G
c.113A>G (p.Asn38Ser)
c.2579A>G (p.Asn860Ser)
c.655+2594A>G (n.655+2594A>G)
c.1168-677A>G (n.1168-677A>G)
c.2510A>G (p.Asn837Ser)
c.2573A>G (p.Asn858Ser)
c.2561A>G (p.Asn854Ser)
2g.144398605T>GCA348707892ZEB2c.*2431A>C (n.*2431A>C)
c.1805A>C (p.Asn602Thr)
c.2582A>C (p.Asn861Thr)
n.2551A>C
c.2246A>C (p.Asn749Thr)
c.2657A>C (p.Asn886Thr)
c.*2299A>C (n.*2299A>C)
n.2682A>C
c.113A>C (p.Asn38Thr)
c.2579A>C (p.Asn860Thr)
c.655+2594A>C (n.655+2594A>C)
c.1168-677A>C (n.1168-677A>C)
c.2510A>C (p.Asn837Thr)
c.2573A>C (p.Asn858Thr)
c.2561A>C (p.Asn854Thr)
2g.144398606T>ACA348707894ZEB2c.*2430A>T (n.*2430A>T)
c.1804A>T (p.Asn602Tyr)
c.2581A>T (p.Asn861Tyr)
n.2550A>T
c.2245A>T (p.Asn749Tyr)
c.2656A>T (p.Asn886Tyr)
c.*2298A>T (n.*2298A>T)
n.2681A>T
c.112A>T (p.Asn38Tyr)
c.2578A>T (p.Asn860Tyr)
c.655+2593A>T (n.655+2593A>T)
c.1168-678A>T (n.1168-678A>T)
c.2509A>T (p.Asn837Tyr)
c.2572A>T (p.Asn858Tyr)
c.2560A>T (p.Asn854Tyr)
2g.144398606T>CCA348707896ZEB2c.*2430A>G (n.*2430A>G)
c.1804A>G (p.Asn602Asp)
c.2581A>G (p.Asn861Asp)
n.2550A>G
c.2245A>G (p.Asn749Asp)
c.2656A>G (p.Asn886Asp)
c.*2298A>G (n.*2298A>G)
n.2681A>G
c.112A>G (p.Asn38Asp)
c.2578A>G (p.Asn860Asp)
c.655+2593A>G (n.655+2593A>G)
c.1168-678A>G (n.1168-678A>G)
c.2509A>G (p.Asn837Asp)
c.2572A>G (p.Asn858Asp)
c.2560A>G (p.Asn854Asp)
2g.144398606T>GCA348707898ZEB2c.*2430A>C (n.*2430A>C)
c.1804A>C (p.Asn602His)
c.2581A>C (p.Asn861His)
n.2550A>C
c.2245A>C (p.Asn749His)
c.2656A>C (p.Asn886His)
c.*2298A>C (n.*2298A>C)
n.2681A>C
c.112A>C (p.Asn38His)
c.2578A>C (p.Asn860His)
c.655+2593A>C (n.655+2593A>C)
c.1168-678A>C (n.1168-678A>C)
c.2509A>C (p.Asn837His)
c.2572A>C (p.Asn858His)
c.2560A>C (p.Asn854His)
2g.144398607C>ACA429445587ZEB2c.*2429G>T (n.*2429G>T)
c.1803G>T (p.Leu601=)
c.2580G>T (p.Leu860=)
n.2549G>T
c.2244G>T (p.Leu748=)
c.2655G>T (p.Leu885=)
c.*2297G>T (n.*2297G>T)
n.2680G>T
c.111G>T (p.Leu37=)
c.2577G>T (p.Leu859=)
c.655+2592G>T (n.655+2592G>T)
c.1168-679G>T (n.1168-679G>T)
c.2508G>T (p.Leu836=)
c.2571G>T (p.Leu857=)
c.2559G>T (p.Leu853=)
2g.144398607C=CA1294884962ZEB2c.*2429G= (n.*2429G=)
c.1803G= (p.Leu601=)
c.2580G= (p.Leu860=)
n.2549G=
c.2244G= (p.Leu748=)
c.2655G= (p.Leu885=)
c.*2297G= (n.*2297G=)
n.2680G=
c.111G= (p.Leu37=)
c.2577G= (p.Leu859=)
c.655+2592G= (n.655+2592G=)
c.1168-679G= (n.1168-679G=)
c.2508G= (p.Leu836=)
c.2571G= (p.Leu857=)
c.2559G= (p.Leu853=)
2g.144398607C>GCA429445585ZEB2c.*2429G>C (n.*2429G>C)
c.1803G>C (p.Leu601=)
c.2580G>C (p.Leu860=)
n.2549G>C
c.2244G>C (p.Leu748=)
c.2655G>C (p.Leu885=)
c.*2297G>C (n.*2297G>C)
n.2680G>C
c.111G>C (p.Leu37=)
c.2577G>C (p.Leu859=)
c.655+2592G>C (n.655+2592G>C)
c.1168-679G>C (n.1168-679G>C)
c.2508G>C (p.Leu836=)
c.2571G>C (p.Leu857=)
c.2559G>C (p.Leu853=)
2g.144398607C>TCA429445586ZEB2c.*2429G>A (n.*2429G>A)
c.1803G>A (p.Leu601=)
c.2580G>A (p.Leu860=)
n.2549G>A
c.2244G>A (p.Leu748=)
c.2655G>A (p.Leu885=)
c.*2297G>A (n.*2297G>A)
n.2680G>A
c.111G>A (p.Leu37=)
c.2577G>A (p.Leu859=)
c.655+2592G>A (n.655+2592G>A)
c.1168-679G>A (n.1168-679G>A)
c.2508G>A (p.Leu836=)
c.2571G>A (p.Leu857=)
c.2559G>A (p.Leu853=)
2g.144398608delCA2586970086ZEB2c.*2428del (n.*2428del)
c.1802del (p.Leu601ArgfsTer3)
c.2579del (p.Leu860ArgfsTer3)
n.2548del
c.2243del (p.Leu748ArgfsTer3)
c.2654del (p.Leu885ArgfsTer3)
c.*2296del (n.*2296del)
n.2679del
c.110del (p.Leu37ArgfsTer3)
c.2576del (p.Leu859ArgfsTer3)
c.655+2591del (n.655+2591del)
c.1168-680del (n.1168-680del)
c.2507del (p.Leu836ArgfsTer3)
c.2570del (p.Leu857ArgfsTer3)
c.2558del (p.Leu853ArgfsTer3)
2g.144398608A>CCA348707904ZEB2c.*2428T>G (n.*2428T>G)
c.1802T>G (p.Leu601Arg)
c.2579T>G (p.Leu860Arg)
n.2548T>G
c.2243T>G (p.Leu748Arg)
c.2654T>G (p.Leu885Arg)
c.*2296T>G (n.*2296T>G)
n.2679T>G
c.110T>G (p.Leu37Arg)
c.2576T>G (p.Leu859Arg)
c.655+2591T>G (n.655+2591T>G)
c.1168-680T>G (n.1168-680T>G)
c.2507T>G (p.Leu836Arg)
c.2570T>G (p.Leu857Arg)
c.2558T>G (p.Leu853Arg)
2g.144398608A>GCA348707902ZEB2c.*2428T>C (n.*2428T>C)
c.1802T>C (p.Leu601Pro)
c.2579T>C (p.Leu860Pro)
n.2548T>C
c.2243T>C (p.Leu748Pro)
c.2654T>C (p.Leu885Pro)
c.*2296T>C (n.*2296T>C)
n.2679T>C
c.110T>C (p.Leu37Pro)
c.2576T>C (p.Leu859Pro)
c.655+2591T>C (n.655+2591T>C)
c.1168-680T>C (n.1168-680T>C)
c.2507T>C (p.Leu836Pro)
c.2570T>C (p.Leu857Pro)
c.2558T>C (p.Leu853Pro)
2g.144398608A>TCA348707900ZEB2c.*2428T>A (n.*2428T>A)
c.1802T>A (p.Leu601Gln)
c.2579T>A (p.Leu860Gln)
n.2548T>A
c.2243T>A (p.Leu748Gln)
c.2654T>A (p.Leu885Gln)
c.*2296T>A (n.*2296T>A)
n.2679T>A
c.110T>A (p.Leu37Gln)
c.2576T>A (p.Leu859Gln)
c.655+2591T>A (n.655+2591T>A)
c.1168-680T>A (n.1168-680T>A)
c.2507T>A (p.Leu836Gln)
c.2570T>A (p.Leu857Gln)
c.2558T>A (p.Leu853Gln)
2g.144398610_144398611dupCA915942796ZEB2c.*2427_*2428dup (n.*2427_*2428dup)
c.1801_1802dup (p.Asn602Ter)
c.2578_2579dup (p.Asn861Ter)
n.2547_2548dup
c.2242_2243dup (p.Asn749Ter)
c.2653_2654dup (p.Asn886Ter)
c.*2295_*2296dup (n.*2295_*2296dup)
n.2678_2679dup
c.109_110dup (p.Asn38Ter)
c.2575_2576dup (p.Asn860Ter)
c.655+2590_655+2591dup (n.655+2590_655+2591dup)
c.1168-681_1168-680dup (n.1168-681_1168-680dup)
c.2506_2507dup (p.Asn837Ter)
c.2569_2570dup (p.Asn858Ter)
c.2557_2558dup (p.Asn854Ter)
 ClinVar dbSNP
2g.144398609G>ACA429445590ZEB2c.*2427C>T (n.*2427C>T)
c.1801C>T (p.Leu601=)
c.2578C>T (p.Leu860=)
n.2547C>T
c.2242C>T (p.Leu748=)
c.2653C>T (p.Leu885=)
c.*2295C>T (n.*2295C>T)
n.2678C>T
c.109C>T (p.Leu37=)
c.2575C>T (p.Leu859=)
c.655+2590C>T (n.655+2590C>T)
c.1168-681C>T (n.1168-681C>T)
c.2506C>T (p.Leu836=)
c.2569C>T (p.Leu857=)
c.2557C>T (p.Leu853=)
 gnomAD v4
2g.144398609G>CCA348707906ZEB2c.*2427C>G (n.*2427C>G)
c.1801C>G (p.Leu601Val)
c.2578C>G (p.Leu860Val)
n.2547C>G
c.2242C>G (p.Leu748Val)
c.2653C>G (p.Leu885Val)
c.*2295C>G (n.*2295C>G)
n.2678C>G
c.109C>G (p.Leu37Val)
c.2575C>G (p.Leu859Val)
c.655+2590C>G (n.655+2590C>G)
c.1168-681C>G (n.1168-681C>G)
c.2506C>G (p.Leu836Val)
c.2569C>G (p.Leu857Val)
c.2557C>G (p.Leu853Val)
 gnomAD v4
2g.144398609G>TCA348707908ZEB2c.*2427C>A (n.*2427C>A)
c.1801C>A (p.Leu601Met)
c.2578C>A (p.Leu860Met)
n.2547C>A
c.2242C>A (p.Leu748Met)
c.2653C>A (p.Leu885Met)
c.*2295C>A (n.*2295C>A)
n.2678C>A
c.109C>A (p.Leu37Met)
c.2575C>A (p.Leu859Met)
c.655+2590C>A (n.655+2590C>A)
c.1168-681C>A (n.1168-681C>A)
c.2506C>A (p.Leu836Met)
c.2569C>A (p.Leu857Met)
c.2557C>A (p.Leu853Met)
2g.144398610A>CCA429445591ZEB2c.*2426T>G (n.*2426T>G)
c.1800T>G (p.Pro600=)
c.2577T>G (p.Pro859=)
n.2546T>G
c.2241T>G (p.Pro747=)
c.2652T>G (p.Pro884=)
c.*2294T>G (n.*2294T>G)
n.2677T>G
c.108T>G (p.Pro36=)
c.2574T>G (p.Pro858=)
c.655+2589T>G (n.655+2589T>G)
c.1168-682T>G (n.1168-682T>G)
c.2505T>G (p.Pro835=)
c.2568T>G (p.Pro856=)
c.2556T>G (p.Pro852=)
2g.144398610A>GCA429445593ZEB2c.*2426T>C (n.*2426T>C)
c.1800T>C (p.Pro600=)
c.2577T>C (p.Pro859=)
n.2546T>C
c.2241T>C (p.Pro747=)
c.2652T>C (p.Pro884=)
c.*2294T>C (n.*2294T>C)
n.2677T>C
c.108T>C (p.Pro36=)
c.2574T>C (p.Pro858=)
c.655+2589T>C (n.655+2589T>C)
c.1168-682T>C (n.1168-682T>C)
c.2505T>C (p.Pro835=)
c.2568T>C (p.Pro856=)
c.2556T>C (p.Pro852=)
2g.144398610A>TCA429445592ZEB2c.*2426T>A (n.*2426T>A)
c.1800T>A (p.Pro600=)
c.2577T>A (p.Pro859=)
n.2546T>A
c.2241T>A (p.Pro747=)
c.2652T>A (p.Pro884=)
c.*2294T>A (n.*2294T>A)
n.2677T>A
c.108T>A (p.Pro36=)
c.2574T>A (p.Pro858=)
c.655+2589T>A (n.655+2589T>A)
c.1168-682T>A (n.1168-682T>A)
c.2505T>A (p.Pro835=)
c.2568T>A (p.Pro856=)
c.2556T>A (p.Pro852=)
2g.144398610dupCA2580063843ZEB2c.*2426dup (n.*2426dup)
c.1800dup (p.Leu601SerfsTer15)
c.2577dup (p.Leu860SerfsTer15)
n.2546dup
c.2241dup (p.Leu748SerfsTer15)
c.2652dup (p.Leu885SerfsTer15)
c.*2294dup (n.*2294dup)
n.2677dup
c.108dup (p.Leu37SerfsTer15)
c.2574dup (p.Leu859SerfsTer15)
c.655+2589dup (n.655+2589dup)
c.1168-682dup (n.1168-682dup)
c.2505dup (p.Leu836SerfsTer15)
c.2568dup (p.Leu857SerfsTer15)
c.2556dup (p.Leu853SerfsTer15)
 ClinVar
2g.144398611G>ACA348707911ZEB2c.*2425C>T (n.*2425C>T)
c.1799C>T (p.Pro600Leu)
c.2576C>T (p.Pro859Leu)
n.2545C>T
c.2240C>T (p.Pro747Leu)
c.2651C>T (p.Pro884Leu)
c.*2293C>T (n.*2293C>T)
n.2676C>T
c.107C>T (p.Pro36Leu)
c.2573C>T (p.Pro858Leu)
c.655+2588C>T (n.655+2588C>T)
c.1168-683C>T (n.1168-683C>T)
c.2504C>T (p.Pro835Leu)
c.2567C>T (p.Pro856Leu)
c.2555C>T (p.Pro852Leu)
2g.144398611G>CCA348707912ZEB2c.*2425C>G (n.*2425C>G)
c.1799C>G (p.Pro600Arg)
c.2576C>G (p.Pro859Arg)
n.2545C>G
c.2240C>G (p.Pro747Arg)
c.2651C>G (p.Pro884Arg)
c.*2293C>G (n.*2293C>G)
n.2676C>G
c.107C>G (p.Pro36Arg)
c.2573C>G (p.Pro858Arg)
c.655+2588C>G (n.655+2588C>G)
c.1168-683C>G (n.1168-683C>G)
c.2504C>G (p.Pro835Arg)
c.2567C>G (p.Pro856Arg)
c.2555C>G (p.Pro852Arg)
2g.144398611G>TCA348707914ZEB2c.*2425C>A (n.*2425C>A)
c.1799C>A (p.Pro600His)
c.2576C>A (p.Pro859His)
n.2545C>A
c.2240C>A (p.Pro747His)
c.2651C>A (p.Pro884His)
c.*2293C>A (n.*2293C>A)
n.2676C>A
c.107C>A (p.Pro36His)
c.2573C>A (p.Pro858His)
c.655+2588C>A (n.655+2588C>A)
c.1168-683C>A (n.1168-683C>A)
c.2504C>A (p.Pro835His)
c.2567C>A (p.Pro856His)
c.2555C>A (p.Pro852His)
2g.144398612G>ACA348707915ZEB2c.*2424C>T (n.*2424C>T)
c.1798C>T (p.Pro600Ser)
c.2575C>T (p.Pro859Ser)
n.2544C>T
c.2239C>T (p.Pro747Ser)
c.2650C>T (p.Pro884Ser)
c.*2292C>T (n.*2292C>T)
n.2675C>T
c.106C>T (p.Pro36Ser)
c.2572C>T (p.Pro858Ser)
c.655+2587C>T (n.655+2587C>T)
c.1168-684C>T (n.1168-684C>T)
c.2503C>T (p.Pro835Ser)
c.2566C>T (p.Pro856Ser)
c.2554C>T (p.Pro852Ser)
2g.144398612G>CCA348707917ZEB2c.*2424C>G (n.*2424C>G)
c.1798C>G (p.Pro600Ala)
c.2575C>G (p.Pro859Ala)
n.2544C>G
c.2239C>G (p.Pro747Ala)
c.2650C>G (p.Pro884Ala)
c.*2292C>G (n.*2292C>G)
n.2675C>G
c.106C>G (p.Pro36Ala)
c.2572C>G (p.Pro858Ala)
c.655+2587C>G (n.655+2587C>G)
c.1168-684C>G (n.1168-684C>G)
c.2503C>G (p.Pro835Ala)
c.2566C>G (p.Pro856Ala)
c.2554C>G (p.Pro852Ala)
2g.144398612G>TCA348707918ZEB2c.*2424C>A (n.*2424C>A)
c.1798C>A (p.Pro600Thr)
c.2575C>A (p.Pro859Thr)
n.2544C>A
c.2239C>A (p.Pro747Thr)
c.2650C>A (p.Pro884Thr)
c.*2292C>A (n.*2292C>A)
n.2675C>A
c.106C>A (p.Pro36Thr)
c.2572C>A (p.Pro858Thr)
c.655+2587C>A (n.655+2587C>A)
c.1168-684C>A (n.1168-684C>A)
c.2503C>A (p.Pro835Thr)
c.2566C>A (p.Pro856Thr)
c.2554C>A (p.Pro852Thr)
2g.144398613C>ACA348707921ZEB2c.*2423G>T (n.*2423G>T)
c.1797G>T (p.Glu599Asp)
c.2574G>T (p.Glu858Asp)
n.2543G>T
c.2238G>T (p.Glu746Asp)
c.2649G>T (p.Glu883Asp)
c.*2291G>T (n.*2291G>T)
n.2674G>T
c.105G>T (p.Glu35Asp)
c.2571G>T (p.Glu857Asp)
c.655+2586G>T (n.655+2586G>T)
c.1168-685G>T (n.1168-685G>T)
c.2502G>T (p.Glu834Asp)
c.2565G>T (p.Glu855Asp)
c.2553G>T (p.Glu851Asp)
2g.144398613C>GCA348707922ZEB2c.*2423G>C (n.*2423G>C)
c.1797G>C (p.Glu599Asp)
c.2574G>C (p.Glu858Asp)
n.2543G>C
c.2238G>C (p.Glu746Asp)
c.2649G>C (p.Glu883Asp)
c.*2291G>C (n.*2291G>C)
n.2674G>C
c.105G>C (p.Glu35Asp)
c.2571G>C (p.Glu857Asp)
c.655+2586G>C (n.655+2586G>C)
c.1168-685G>C (n.1168-685G>C)
c.2502G>C (p.Glu834Asp)
c.2565G>C (p.Glu855Asp)
c.2553G>C (p.Glu851Asp)
2g.144398613C>TCA429445599ZEB2c.*2423G>A (n.*2423G>A)
c.1797G>A (p.Glu599=)
c.2574G>A (p.Glu858=)
n.2543G>A
c.2238G>A (p.Glu746=)
c.2649G>A (p.Glu883=)
c.*2291G>A (n.*2291G>A)
n.2674G>A
c.105G>A (p.Glu35=)
c.2571G>A (p.Glu857=)
c.655+2586G>A (n.655+2586G>A)
c.1168-685G>A (n.1168-685G>A)
c.2502G>A (p.Glu834=)
c.2565G>A (p.Glu855=)
c.2553G>A (p.Glu851=)
 gnomAD v4
2g.144398614T>ACA348707925ZEB2c.*2422A>T (n.*2422A>T)
c.1796A>T (p.Glu599Val)
c.2573A>T (p.Glu858Val)
n.2542A>T
c.2237A>T (p.Glu746Val)
c.2648A>T (p.Glu883Val)
c.*2290A>T (n.*2290A>T)
n.2673A>T
c.104A>T (p.Glu35Val)
c.2570A>T (p.Glu857Val)
c.655+2585A>T (n.655+2585A>T)
c.1168-686A>T (n.1168-686A>T)
c.2501A>T (p.Glu834Val)
c.2564A>T (p.Glu855Val)
c.2552A>T (p.Glu851Val)
2g.144398614T>CCA348707926ZEB2c.*2422A>G (n.*2422A>G)
c.1796A>G (p.Glu599Gly)
c.2573A>G (p.Glu858Gly)
n.2542A>G
c.2237A>G (p.Glu746Gly)
c.2648A>G (p.Glu883Gly)
c.*2290A>G (n.*2290A>G)
n.2673A>G
c.104A>G (p.Glu35Gly)
c.2570A>G (p.Glu857Gly)
c.655+2585A>G (n.655+2585A>G)
c.1168-686A>G (n.1168-686A>G)
c.2501A>G (p.Glu834Gly)
c.2564A>G (p.Glu855Gly)
c.2552A>G (p.Glu851Gly)
2g.144398614T>GCA348707928ZEB2c.*2422A>C (n.*2422A>C)
c.1796A>C (p.Glu599Ala)
c.2573A>C (p.Glu858Ala)
n.2542A>C
c.2237A>C (p.Glu746Ala)
c.2648A>C (p.Glu883Ala)
c.*2290A>C (n.*2290A>C)
n.2673A>C
c.104A>C (p.Glu35Ala)
c.2570A>C (p.Glu857Ala)
c.655+2585A>C (n.655+2585A>C)
c.1168-686A>C (n.1168-686A>C)
c.2501A>C (p.Glu834Ala)
c.2564A>C (p.Glu855Ala)
c.2552A>C (p.Glu851Ala)
2g.144398615C>ACA348707933ZEB2c.*2421G>T (n.*2421G>T)
c.1795G>T (p.Glu599Ter)
c.2572G>T (p.Glu858Ter)
n.2541G>T
c.2236G>T (p.Glu746Ter)
c.2647G>T (p.Glu883Ter)
c.*2289G>T (n.*2289G>T)
n.2672G>T
c.103G>T (p.Glu35Ter)
c.2569G>T (p.Glu857Ter)
c.655+2584G>T (n.655+2584G>T)
c.1168-687G>T (n.1168-687G>T)
c.2500G>T (p.Glu834Ter)
c.2563G>T (p.Glu855Ter)
c.2551G>T (p.Glu851Ter)
2g.144398615C>GCA348707934ZEB2c.*2421G>C (n.*2421G>C)
c.1795G>C (p.Glu599Gln)
c.2572G>C (p.Glu858Gln)
n.2541G>C
c.2236G>C (p.Glu746Gln)
c.2647G>C (p.Glu883Gln)
c.*2289G>C (n.*2289G>C)
n.2672G>C
c.103G>C (p.Glu35Gln)
c.2569G>C (p.Glu857Gln)
c.655+2584G>C (n.655+2584G>C)
c.1168-687G>C (n.1168-687G>C)
c.2500G>C (p.Glu834Gln)
c.2563G>C (p.Glu855Gln)
c.2551G>C (p.Glu851Gln)
2g.144398615C>TCA348707931ZEB2c.*2421G>A (n.*2421G>A)
c.1795G>A (p.Glu599Lys)
c.2572G>A (p.Glu858Lys)
n.2541G>A
c.2236G>A (p.Glu746Lys)
c.2647G>A (p.Glu883Lys)
c.*2289G>A (n.*2289G>A)
n.2672G>A
c.103G>A (p.Glu35Lys)
c.2569G>A (p.Glu857Lys)
c.655+2584G>A (n.655+2584G>A)
c.1168-687G>A (n.1168-687G>A)
c.2500G>A (p.Glu834Lys)
c.2563G>A (p.Glu855Lys)
c.2551G>A (p.Glu851Lys)
 gnomAD v4
2g.144398616A=CA1294884963ZEB2c.*2420T= (n.*2420T=)
c.1794T= (p.Asp598=)
c.2571T= (p.Asp857=)
n.2540T=
c.2235T= (p.Asp745=)
c.2646T= (p.Asp882=)
c.*2288T= (n.*2288T=)
n.2671T=
c.102T= (p.Asp34=)
c.2568T= (p.Asp856=)
c.655+2583T= (n.655+2583T=)
c.1168-688T= (n.1168-688T=)
c.2499T= (p.Asp833=)
c.2562T= (p.Asp854=)
c.2550T= (p.Asp850=)
2g.144398616A>CCA348707936ZEB2c.*2420T>G (n.*2420T>G)
c.1794T>G (p.Asp598Glu)
c.2571T>G (p.Asp857Glu)
n.2540T>G
c.2235T>G (p.Asp745Glu)
c.2646T>G (p.Asp882Glu)
c.*2288T>G (n.*2288T>G)
n.2671T>G
c.102T>G (p.Asp34Glu)
c.2568T>G (p.Asp856Glu)
c.655+2583T>G (n.655+2583T>G)
c.1168-688T>G (n.1168-688T>G)
c.2499T>G (p.Asp833Glu)
c.2562T>G (p.Asp854Glu)
c.2550T>G (p.Asp850Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.144398616A>GCA429445605ZEB2c.*2420T>C (n.*2420T>C)
c.1794T>C (p.Asp598=)
c.2571T>C (p.Asp857=)
n.2540T>C
c.2235T>C (p.Asp745=)
c.2646T>C (p.Asp882=)
c.*2288T>C (n.*2288T>C)
n.2671T>C
c.102T>C (p.Asp34=)
c.2568T>C (p.Asp856=)
c.655+2583T>C (n.655+2583T>C)
c.1168-688T>C (n.1168-688T>C)
c.2499T>C (p.Asp833=)
c.2562T>C (p.Asp854=)
c.2550T>C (p.Asp850=)
2g.144398616A>TCA348707937ZEB2c.*2420T>A (n.*2420T>A)
c.1794T>A (p.Asp598Glu)
c.2571T>A (p.Asp857Glu)
n.2540T>A
c.2235T>A (p.Asp745Glu)
c.2646T>A (p.Asp882Glu)
c.*2288T>A (n.*2288T>A)
n.2671T>A
c.102T>A (p.Asp34Glu)
c.2568T>A (p.Asp856Glu)
c.655+2583T>A (n.655+2583T>A)
c.1168-688T>A (n.1168-688T>A)
c.2499T>A (p.Asp833Glu)
c.2562T>A (p.Asp854Glu)
c.2550T>A (p.Asp850Glu)
2g.144398617T>ACA348707939ZEB2c.*2419A>T (n.*2419A>T)
c.1793A>T (p.Asp598Val)
c.2570A>T (p.Asp857Val)
n.2539A>T
c.2234A>T (p.Asp745Val)
c.2645A>T (p.Asp882Val)
c.*2287A>T (n.*2287A>T)
n.2670A>T
c.101A>T (p.Asp34Val)
c.2567A>T (p.Asp856Val)
c.655+2582A>T (n.655+2582A>T)
c.1168-689A>T (n.1168-689A>T)
c.2498A>T (p.Asp833Val)
c.2561A>T (p.Asp854Val)
c.2549A>T (p.Asp850Val)
 dbSNP COSMIC
2g.144398617T>CCA348707941ZEB2c.*2419A>G (n.*2419A>G)
c.1793A>G (p.Asp598Gly)
c.2570A>G (p.Asp857Gly)
n.2539A>G
c.2234A>G (p.Asp745Gly)
c.2645A>G (p.Asp882Gly)
c.*2287A>G (n.*2287A>G)
n.2670A>G
c.101A>G (p.Asp34Gly)
c.2567A>G (p.Asp856Gly)
c.655+2582A>G (n.655+2582A>G)
c.1168-689A>G (n.1168-689A>G)
c.2498A>G (p.Asp833Gly)
c.2561A>G (p.Asp854Gly)
c.2549A>G (p.Asp850Gly)
 gnomAD v4
2g.144398617T>GCA348707942ZEB2c.*2419A>C (n.*2419A>C)
c.1793A>C (p.Asp598Ala)
c.2570A>C (p.Asp857Ala)
n.2539A>C
c.2234A>C (p.Asp745Ala)
c.2645A>C (p.Asp882Ala)
c.*2287A>C (n.*2287A>C)
n.2670A>C
c.101A>C (p.Asp34Ala)
c.2567A>C (p.Asp856Ala)
c.655+2582A>C (n.655+2582A>C)
c.1168-689A>C (n.1168-689A>C)
c.2498A>C (p.Asp833Ala)
c.2561A>C (p.Asp854Ala)
c.2549A>C (p.Asp850Ala)
2g.144398617T=CA1294884964ZEB2c.*2419A= (n.*2419A=)
c.1793A= (p.Asp598=)
c.2570A= (p.Asp857=)
n.2539A=
c.2234A= (p.Asp745=)
c.2645A= (p.Asp882=)
c.*2287A= (n.*2287A=)
n.2670A=
c.101A= (p.Asp34=)
c.2567A= (p.Asp856=)
c.655+2582A= (n.655+2582A=)
c.1168-689A= (n.1168-689A=)
c.2498A= (p.Asp833=)
c.2561A= (p.Asp854=)
c.2549A= (p.Asp850=)
2g.144398618C>ACA348707943ZEB2c.*2418G>T (n.*2418G>T)
c.1792G>T (p.Asp598Tyr)
c.2569G>T (p.Asp857Tyr)
n.2538G>T
c.2233G>T (p.Asp745Tyr)
c.2644G>T (p.Asp882Tyr)
c.*2286G>T (n.*2286G>T)
n.2669G>T
c.100G>T (p.Asp34Tyr)
c.2566G>T (p.Asp856Tyr)
c.655+2581G>T (n.655+2581G>T)
c.1168-690G>T (n.1168-690G>T)
c.2497G>T (p.Asp833Tyr)
c.2560G>T (p.Asp854Tyr)
c.2548G>T (p.Asp850Tyr)
2g.144398618C>GCA348707944ZEB2c.*2418G>C (n.*2418G>C)
c.1792G>C (p.Asp598His)
c.2569G>C (p.Asp857His)
n.2538G>C
c.2233G>C (p.Asp745His)
c.2644G>C (p.Asp882His)
c.*2286G>C (n.*2286G>C)
n.2669G>C
c.100G>C (p.Asp34His)
c.2566G>C (p.Asp856His)
c.655+2581G>C (n.655+2581G>C)
c.1168-690G>C (n.1168-690G>C)
c.2497G>C (p.Asp833His)
c.2560G>C (p.Asp854His)
c.2548G>C (p.Asp850His)
2g.144398618C>TCA348707945ZEB2c.*2418G>A (n.*2418G>A)
c.1792G>A (p.Asp598Asn)
c.2569G>A (p.Asp857Asn)
n.2538G>A
c.2233G>A (p.Asp745Asn)
c.2644G>A (p.Asp882Asn)
c.*2286G>A (n.*2286G>A)
n.2669G>A
c.100G>A (p.Asp34Asn)
c.2566G>A (p.Asp856Asn)
c.655+2581G>A (n.655+2581G>A)
c.1168-690G>A (n.1168-690G>A)
c.2497G>A (p.Asp833Asn)
c.2560G>A (p.Asp854Asn)
c.2548G>A (p.Asp850Asn)
2g.144398619T>ACA429445609ZEB2c.*2417A>T (n.*2417A>T)
c.1791A>T (p.Ser597=)
c.2568A>T (p.Ser856=)
n.2537A>T
c.2232A>T (p.Ser744=)
c.2643A>T (p.Ser881=)
c.*2285A>T (n.*2285A>T)
n.2668A>T
c.99A>T (p.Ser33=)
c.2565A>T (p.Ser855=)
c.655+2580A>T (n.655+2580A>T)
c.1168-691A>T (n.1168-691A>T)
c.2496A>T (p.Ser832=)
c.2559A>T (p.Ser853=)
c.2547A>T (p.Ser849=)
2g.144398619T>CCA429445611ZEB2c.*2417A>G (n.*2417A>G)
c.1791A>G (p.Ser597=)
c.2568A>G (p.Ser856=)
n.2537A>G
c.2232A>G (p.Ser744=)
c.2643A>G (p.Ser881=)
c.*2285A>G (n.*2285A>G)
n.2668A>G
c.99A>G (p.Ser33=)
c.2565A>G (p.Ser855=)
c.655+2580A>G (n.655+2580A>G)
c.1168-691A>G (n.1168-691A>G)
c.2496A>G (p.Ser832=)
c.2559A>G (p.Ser853=)
c.2547A>G (p.Ser849=)
2g.144398619T>GCA429445612ZEB2c.*2417A>C (n.*2417A>C)
c.1791A>C (p.Ser597=)
c.2568A>C (p.Ser856=)
n.2537A>C
c.2232A>C (p.Ser744=)
c.2643A>C (p.Ser881=)
c.*2285A>C (n.*2285A>C)
n.2668A>C
c.99A>C (p.Ser33=)
c.2565A>C (p.Ser855=)
c.655+2580A>C (n.655+2580A>C)
c.1168-691A>C (n.1168-691A>C)
c.2496A>C (p.Ser832=)
c.2559A>C (p.Ser853=)
c.2547A>C (p.Ser849=)
2g.144398620G>ACA348707947ZEB2c.*2416C>T (n.*2416C>T)
c.1790C>T (p.Ser597Leu)
c.2567C>T (p.Ser856Leu)
n.2536C>T
c.2231C>T (p.Ser744Leu)
c.2642C>T (p.Ser881Leu)
c.*2284C>T (n.*2284C>T)
n.2667C>T
c.98C>T (p.Ser33Leu)
c.2564C>T (p.Ser855Leu)
c.655+2579C>T (n.655+2579C>T)
c.1168-692C>T (n.1168-692C>T)
c.2495C>T (p.Ser832Leu)
c.2558C>T (p.Ser853Leu)
c.2546C>T (p.Ser849Leu)
2g.144398620G>CCA348707949ZEB2c.*2416C>G (n.*2416C>G)
c.1790C>G (p.Ser597Ter)
c.2567C>G (p.Ser856Ter)
n.2536C>G
c.2231C>G (p.Ser744Ter)
c.2642C>G (p.Ser881Ter)
c.*2284C>G (n.*2284C>G)
n.2667C>G
c.98C>G (p.Ser33Ter)
c.2564C>G (p.Ser855Ter)
c.655+2579C>G (n.655+2579C>G)
c.1168-692C>G (n.1168-692C>G)
c.2495C>G (p.Ser832Ter)
c.2558C>G (p.Ser853Ter)
c.2546C>G (p.Ser849Ter)
2g.144398620G>TCA348707951ZEB2c.*2416C>A (n.*2416C>A)
c.1790C>A (p.Ser597Ter)
c.2567C>A (p.Ser856Ter)
n.2536C>A
c.2231C>A (p.Ser744Ter)
c.2642C>A (p.Ser881Ter)
c.*2284C>A (n.*2284C>A)
n.2667C>A
c.98C>A (p.Ser33Ter)
c.2564C>A (p.Ser855Ter)
c.655+2579C>A (n.655+2579C>A)
c.1168-692C>A (n.1168-692C>A)
c.2495C>A (p.Ser832Ter)
c.2558C>A (p.Ser853Ter)
c.2546C>A (p.Ser849Ter)
2g.144398621A>CCA348707957ZEB2c.*2415T>G (n.*2415T>G)
c.1789T>G (p.Ser597Ala)
c.2566T>G (p.Ser856Ala)
n.2535T>G
c.2230T>G (p.Ser744Ala)
c.2641T>G (p.Ser881Ala)
c.*2283T>G (n.*2283T>G)
n.2666T>G
c.97T>G (p.Ser33Ala)
c.2563T>G (p.Ser855Ala)
c.655+2578T>G (n.655+2578T>G)
c.1168-693T>G (n.1168-693T>G)
c.2494T>G (p.Ser832Ala)
c.2557T>G (p.Ser853Ala)
c.2545T>G (p.Ser849Ala)
2g.144398621A>GCA348707955ZEB2c.*2415T>C (n.*2415T>C)
c.1789T>C (p.Ser597Pro)
c.2566T>C (p.Ser856Pro)
n.2535T>C
c.2230T>C (p.Ser744Pro)
c.2641T>C (p.Ser881Pro)
c.*2283T>C (n.*2283T>C)
n.2666T>C
c.97T>C (p.Ser33Pro)
c.2563T>C (p.Ser855Pro)
c.655+2578T>C (n.655+2578T>C)
c.1168-693T>C (n.1168-693T>C)
c.2494T>C (p.Ser832Pro)
c.2557T>C (p.Ser853Pro)
c.2545T>C (p.Ser849Pro)
2g.144398621A>TCA348707953ZEB2c.*2415T>A (n.*2415T>A)
c.1789T>A (p.Ser597Thr)
c.2566T>A (p.Ser856Thr)
n.2535T>A
c.2230T>A (p.Ser744Thr)
c.2641T>A (p.Ser881Thr)
c.*2283T>A (n.*2283T>A)
n.2666T>A
c.97T>A (p.Ser33Thr)
c.2563T>A (p.Ser855Thr)
c.655+2578T>A (n.655+2578T>A)
c.1168-693T>A (n.1168-693T>A)
c.2494T>A (p.Ser832Thr)
c.2557T>A (p.Ser853Thr)
c.2545T>A (p.Ser849Thr)
2g.144398622G>ACA429445618ZEB2c.*2414C>T (n.*2414C>T)
c.1788C>T (p.Asn596=)
c.2565C>T (p.Asn855=)
n.2534C>T
c.2229C>T (p.Asn743=)
c.2640C>T (p.Asn880=)
c.*2282C>T (n.*2282C>T)
n.2665C>T
c.96C>T (p.Asn32=)
c.2562C>T (p.Asn854=)
c.655+2577C>T (n.655+2577C>T)
c.1168-694C>T (n.1168-694C>T)
c.2493C>T (p.Asn831=)
c.2556C>T (p.Asn852=)
c.2544C>T (p.Asn848=)
 gnomAD v4
2g.144398622G>CCA57554960ZEB2c.*2414C>G (n.*2414C>G)
c.1788C>G (p.Asn596Lys)
c.2565C>G (p.Asn855Lys)
n.2534C>G
c.2229C>G (p.Asn743Lys)
c.2640C>G (p.Asn880Lys)
c.*2282C>G (n.*2282C>G)
n.2665C>G
c.96C>G (p.Asn32Lys)
c.2562C>G (p.Asn854Lys)
c.655+2577C>G (n.655+2577C>G)
c.1168-694C>G (n.1168-694C>G)
c.2493C>G (p.Asn831Lys)
c.2556C>G (p.Asn852Lys)
c.2544C>G (p.Asn848Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398622G=CA1294884965ZEB2c.*2414C= (n.*2414C=)
c.1788C= (p.Asn596=)
c.2565C= (p.Asn855=)
n.2534C=
c.2229C= (p.Asn743=)
c.2640C= (p.Asn880=)
c.*2282C= (n.*2282C=)
n.2665C=
c.96C= (p.Asn32=)
c.2562C= (p.Asn854=)
c.655+2577C= (n.655+2577C=)
c.1168-694C= (n.1168-694C=)
c.2493C= (p.Asn831=)
c.2556C= (p.Asn852=)
c.2544C= (p.Asn848=)
2g.144398622G>TCA348707960ZEB2c.*2414C>A (n.*2414C>A)
c.1788C>A (p.Asn596Lys)
c.2565C>A (p.Asn855Lys)
n.2534C>A
c.2229C>A (p.Asn743Lys)
c.2640C>A (p.Asn880Lys)
c.*2282C>A (n.*2282C>A)
n.2665C>A
c.96C>A (p.Asn32Lys)
c.2562C>A (p.Asn854Lys)
c.655+2577C>A (n.655+2577C>A)
c.1168-694C>A (n.1168-694C>A)
c.2493C>A (p.Asn831Lys)
c.2556C>A (p.Asn852Lys)
c.2544C>A (p.Asn848Lys)
2g.144398622_144398625delCA2661333311ZEB2c.*2411_*2414del (n.*2411_*2414del)
c.1785_1788del (p.Glu595AspfsTer6)
c.2562_2565del (p.Glu854AspfsTer6)
n.2531_2534del
c.2226_2229del (p.Glu742AspfsTer6)
c.2637_2640del (p.Glu879AspfsTer6)
c.*2279_*2282del (n.*2279_*2282del)
n.2662_2665del
c.93_96del (p.Glu31AspfsTer6)
c.2559_2562del (p.Glu853AspfsTer6)
c.655+2574_655+2577del (n.655+2574_655+2577del)
c.1168-697_1168-694del (n.1168-697_1168-694del)
c.2490_2493del (p.Glu830AspfsTer6)
c.2553_2556del (p.Glu851AspfsTer6)
c.2541_2544del (p.Glu847AspfsTer6)
 gnomAD v4
2g.144398623T>ACA348707962ZEB2c.*2413A>T (n.*2413A>T)
c.1787A>T (p.Asn596Ile)
c.2564A>T (p.Asn855Ile)
n.2533A>T
c.2228A>T (p.Asn743Ile)
c.2639A>T (p.Asn880Ile)
c.*2281A>T (n.*2281A>T)
n.2664A>T
c.95A>T (p.Asn32Ile)
c.2561A>T (p.Asn854Ile)
c.655+2576A>T (n.655+2576A>T)
c.1168-695A>T (n.1168-695A>T)
c.2492A>T (p.Asn831Ile)
c.2555A>T (p.Asn852Ile)
c.2543A>T (p.Asn848Ile)
2g.144398623T>CCA348707964ZEB2c.*2413A>G (n.*2413A>G)
c.1787A>G (p.Asn596Ser)
c.2564A>G (p.Asn855Ser)
n.2533A>G
c.2228A>G (p.Asn743Ser)
c.2639A>G (p.Asn880Ser)
c.*2281A>G (n.*2281A>G)
n.2664A>G
c.95A>G (p.Asn32Ser)
c.2561A>G (p.Asn854Ser)
c.655+2576A>G (n.655+2576A>G)
c.1168-695A>G (n.1168-695A>G)
c.2492A>G (p.Asn831Ser)
c.2555A>G (p.Asn852Ser)
c.2543A>G (p.Asn848Ser)
2g.144398623T>GCA348707965ZEB2c.*2413A>C (n.*2413A>C)
c.1787A>C (p.Asn596Thr)
c.2564A>C (p.Asn855Thr)
n.2533A>C
c.2228A>C (p.Asn743Thr)
c.2639A>C (p.Asn880Thr)
c.*2281A>C (n.*2281A>C)
n.2664A>C
c.95A>C (p.Asn32Thr)
c.2561A>C (p.Asn854Thr)
c.655+2576A>C (n.655+2576A>C)
c.1168-695A>C (n.1168-695A>C)
c.2492A>C (p.Asn831Thr)
c.2555A>C (p.Asn852Thr)
c.2543A>C (p.Asn848Thr)
2g.144398624T>ACA348707967ZEB2c.*2412A>T (n.*2412A>T)
c.1786A>T (p.Asn596Tyr)
c.2563A>T (p.Asn855Tyr)
n.2532A>T
c.2227A>T (p.Asn743Tyr)
c.2638A>T (p.Asn880Tyr)
c.*2280A>T (n.*2280A>T)
n.2663A>T
c.94A>T (p.Asn32Tyr)
c.2560A>T (p.Asn854Tyr)
c.655+2575A>T (n.655+2575A>T)
c.1168-696A>T (n.1168-696A>T)
c.2491A>T (p.Asn831Tyr)
c.2554A>T (p.Asn852Tyr)
c.2542A>T (p.Asn848Tyr)
2g.144398624T>CCA348707969ZEB2c.*2412A>G (n.*2412A>G)
c.1786A>G (p.Asn596Asp)
c.2563A>G (p.Asn855Asp)
n.2532A>G
c.2227A>G (p.Asn743Asp)
c.2638A>G (p.Asn880Asp)
c.*2280A>G (n.*2280A>G)
n.2663A>G
c.94A>G (p.Asn32Asp)
c.2560A>G (p.Asn854Asp)
c.655+2575A>G (n.655+2575A>G)
c.1168-696A>G (n.1168-696A>G)
c.2491A>G (p.Asn831Asp)
c.2554A>G (p.Asn852Asp)
c.2542A>G (p.Asn848Asp)
2g.144398624T>GCA348707971ZEB2c.*2412A>C (n.*2412A>C)
c.1786A>C (p.Asn596His)
c.2563A>C (p.Asn855His)
n.2532A>C
c.2227A>C (p.Asn743His)
c.2638A>C (p.Asn880His)
c.*2280A>C (n.*2280A>C)
n.2663A>C
c.94A>C (p.Asn32His)
c.2560A>C (p.Asn854His)
c.655+2575A>C (n.655+2575A>C)
c.1168-696A>C (n.1168-696A>C)
c.2491A>C (p.Asn831His)
c.2554A>C (p.Asn852His)
c.2542A>C (p.Asn848His)
2g.144398625T>ACA348707973ZEB2c.*2411A>T (n.*2411A>T)
c.1785A>T (p.Glu595Asp)
c.2562A>T (p.Glu854Asp)
n.2531A>T
c.2226A>T (p.Glu742Asp)
c.2637A>T (p.Glu879Asp)
c.*2279A>T (n.*2279A>T)
n.2662A>T
c.93A>T (p.Glu31Asp)
c.2559A>T (p.Glu853Asp)
c.655+2574A>T (n.655+2574A>T)
c.1168-697A>T (n.1168-697A>T)
c.2490A>T (p.Glu830Asp)
c.2553A>T (p.Glu851Asp)
c.2541A>T (p.Glu847Asp)
2g.144398625T>CCA429445626ZEB2c.*2411A>G (n.*2411A>G)
c.1785A>G (p.Glu595=)
c.2562A>G (p.Glu854=)
n.2531A>G
c.2226A>G (p.Glu742=)
c.2637A>G (p.Glu879=)
c.*2279A>G (n.*2279A>G)
n.2662A>G
c.93A>G (p.Glu31=)
c.2559A>G (p.Glu853=)
c.655+2574A>G (n.655+2574A>G)
c.1168-697A>G (n.1168-697A>G)
c.2490A>G (p.Glu830=)
c.2553A>G (p.Glu851=)
c.2541A>G (p.Glu847=)
2g.144398625T>GCA348707974ZEB2c.*2411A>C (n.*2411A>C)
c.1785A>C (p.Glu595Asp)
c.2562A>C (p.Glu854Asp)
n.2531A>C
c.2226A>C (p.Glu742Asp)
c.2637A>C (p.Glu879Asp)
c.*2279A>C (n.*2279A>C)
n.2662A>C
c.93A>C (p.Glu31Asp)
c.2559A>C (p.Glu853Asp)
c.655+2574A>C (n.655+2574A>C)
c.1168-697A>C (n.1168-697A>C)
c.2490A>C (p.Glu830Asp)
c.2553A>C (p.Glu851Asp)
c.2541A>C (p.Glu847Asp)
2g.144398626T>ACA348707977ZEB2c.*2410A>T (n.*2410A>T)
c.1784A>T (p.Glu595Val)
c.2561A>T (p.Glu854Val)
n.2530A>T
c.2225A>T (p.Glu742Val)
c.2636A>T (p.Glu879Val)
c.*2278A>T (n.*2278A>T)
n.2661A>T
c.92A>T (p.Glu31Val)
c.2558A>T (p.Glu853Val)
c.655+2573A>T (n.655+2573A>T)
c.1168-698A>T (n.1168-698A>T)
c.2489A>T (p.Glu830Val)
c.2552A>T (p.Glu851Val)
c.2540A>T (p.Glu847Val)
2g.144398626T>CCA348707978ZEB2c.*2410A>G (n.*2410A>G)
c.1784A>G (p.Glu595Gly)
c.2561A>G (p.Glu854Gly)
n.2530A>G
c.2225A>G (p.Glu742Gly)
c.2636A>G (p.Glu879Gly)
c.*2278A>G (n.*2278A>G)
n.2661A>G
c.92A>G (p.Glu31Gly)
c.2558A>G (p.Glu853Gly)
c.655+2573A>G (n.655+2573A>G)
c.1168-698A>G (n.1168-698A>G)
c.2489A>G (p.Glu830Gly)
c.2552A>G (p.Glu851Gly)
c.2540A>G (p.Glu847Gly)
 gnomAD v4
2g.144398626T>GCA348707980ZEB2c.*2410A>C (n.*2410A>C)
c.1784A>C (p.Glu595Ala)
c.2561A>C (p.Glu854Ala)
n.2530A>C
c.2225A>C (p.Glu742Ala)
c.2636A>C (p.Glu879Ala)
c.*2278A>C (n.*2278A>C)
n.2661A>C
c.92A>C (p.Glu31Ala)
c.2558A>C (p.Glu853Ala)
c.655+2573A>C (n.655+2573A>C)
c.1168-698A>C (n.1168-698A>C)
c.2489A>C (p.Glu830Ala)
c.2552A>C (p.Glu851Ala)
c.2540A>C (p.Glu847Ala)
2g.144398627C>ACA348707984ZEB2c.*2409G>T (n.*2409G>T)
c.1783G>T (p.Glu595Ter)
c.2560G>T (p.Glu854Ter)
n.2529G>T
c.2224G>T (p.Glu742Ter)
c.2635G>T (p.Glu879Ter)
c.*2277G>T (n.*2277G>T)
n.2660G>T
c.91G>T (p.Glu31Ter)
c.2557G>T (p.Glu853Ter)
c.655+2572G>T (n.655+2572G>T)
c.1168-699G>T (n.1168-699G>T)
c.2488G>T (p.Glu830Ter)
c.2551G>T (p.Glu851Ter)
c.2539G>T (p.Glu847Ter)
2g.144398627C>GCA348707985ZEB2c.*2409G>C (n.*2409G>C)
c.1783G>C (p.Glu595Gln)
c.2560G>C (p.Glu854Gln)
n.2529G>C
c.2224G>C (p.Glu742Gln)
c.2635G>C (p.Glu879Gln)
c.*2277G>C (n.*2277G>C)
n.2660G>C
c.91G>C (p.Glu31Gln)
c.2557G>C (p.Glu853Gln)
c.655+2572G>C (n.655+2572G>C)
c.1168-699G>C (n.1168-699G>C)
c.2488G>C (p.Glu830Gln)
c.2551G>C (p.Glu851Gln)
c.2539G>C (p.Glu847Gln)
2g.144398627C>TCA348707982ZEB2c.*2409G>A (n.*2409G>A)
c.1783G>A (p.Glu595Lys)
c.2560G>A (p.Glu854Lys)
n.2529G>A
c.2224G>A (p.Glu742Lys)
c.2635G>A (p.Glu879Lys)
c.*2277G>A (n.*2277G>A)
n.2660G>A
c.91G>A (p.Glu31Lys)
c.2557G>A (p.Glu853Lys)
c.655+2572G>A (n.655+2572G>A)
c.1168-699G>A (n.1168-699G>A)
c.2488G>A (p.Glu830Lys)
c.2551G>A (p.Glu851Lys)
c.2539G>A (p.Glu847Lys)
2g.144398628A=CA1294884966ZEB2c.*2408T= (n.*2408T=)
c.1782T= (p.Ser594=)
c.2559T= (p.Ser853=)
n.2528T=
c.2223T= (p.Ser741=)
c.2634T= (p.Ser878=)
c.*2276T= (n.*2276T=)
n.2659T=
c.90T= (p.Ser30=)
c.2556T= (p.Ser852=)
c.655+2571T= (n.655+2571T=)
c.1168-700T= (n.1168-700T=)
c.2487T= (p.Ser829=)
c.2550T= (p.Ser850=)
c.2538T= (p.Ser846=)
2g.144398628A>CCA1898231ZEB2c.*2408T>G (n.*2408T>G)
c.1782T>G (p.Ser594=)
c.2559T>G (p.Ser853=)
n.2528T>G
c.2223T>G (p.Ser741=)
c.2634T>G (p.Ser878=)
c.*2276T>G (n.*2276T>G)
n.2659T>G
c.90T>G (p.Ser30=)
c.2556T>G (p.Ser852=)
c.655+2571T>G (n.655+2571T>G)
c.1168-700T>G (n.1168-700T>G)
c.2487T>G (p.Ser829=)
c.2550T>G (p.Ser850=)
c.2538T>G (p.Ser846=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398628A>GCA429445637ZEB2c.*2408T>C (n.*2408T>C)
c.1782T>C (p.Ser594=)
c.2559T>C (p.Ser853=)
n.2528T>C
c.2223T>C (p.Ser741=)
c.2634T>C (p.Ser878=)
c.*2276T>C (n.*2276T>C)
n.2659T>C
c.90T>C (p.Ser30=)
c.2556T>C (p.Ser852=)
c.655+2571T>C (n.655+2571T>C)
c.1168-700T>C (n.1168-700T>C)
c.2487T>C (p.Ser829=)
c.2550T>C (p.Ser850=)
c.2538T>C (p.Ser846=)
2g.144398628A>TCA429445638ZEB2c.*2408T>A (n.*2408T>A)
c.1782T>A (p.Ser594=)
c.2559T>A (p.Ser853=)
n.2528T>A
c.2223T>A (p.Ser741=)
c.2634T>A (p.Ser878=)
c.*2276T>A (n.*2276T>A)
n.2659T>A
c.90T>A (p.Ser30=)
c.2556T>A (p.Ser852=)
c.655+2571T>A (n.655+2571T>A)
c.1168-700T>A (n.1168-700T>A)
c.2487T>A (p.Ser829=)
c.2550T>A (p.Ser850=)
c.2538T>A (p.Ser846=)
2g.144398629G>ACA348707988ZEB2c.*2407C>T (n.*2407C>T)
c.1781C>T (p.Ser594Phe)
c.2558C>T (p.Ser853Phe)
n.2527C>T
c.2222C>T (p.Ser741Phe)
c.2633C>T (p.Ser878Phe)
c.*2275C>T (n.*2275C>T)
n.2658C>T
c.89C>T (p.Ser30Phe)
c.2555C>T (p.Ser852Phe)
c.655+2570C>T (n.655+2570C>T)
c.1168-701C>T (n.1168-701C>T)
c.2486C>T (p.Ser829Phe)
c.2549C>T (p.Ser850Phe)
c.2537C>T (p.Ser846Phe)
2g.144398629G>CCA348707992ZEB2c.*2407C>G (n.*2407C>G)
c.1781C>G (p.Ser594Cys)
c.2558C>G (p.Ser853Cys)
n.2527C>G
c.2222C>G (p.Ser741Cys)
c.2633C>G (p.Ser878Cys)
c.*2275C>G (n.*2275C>G)
n.2658C>G
c.89C>G (p.Ser30Cys)
c.2555C>G (p.Ser852Cys)
c.655+2570C>G (n.655+2570C>G)
c.1168-701C>G (n.1168-701C>G)
c.2486C>G (p.Ser829Cys)
c.2549C>G (p.Ser850Cys)
c.2537C>G (p.Ser846Cys)
2g.144398629G>TCA348707990ZEB2c.*2407C>A (n.*2407C>A)
c.1781C>A (p.Ser594Tyr)
c.2558C>A (p.Ser853Tyr)
n.2527C>A
c.2222C>A (p.Ser741Tyr)
c.2633C>A (p.Ser878Tyr)
c.*2275C>A (n.*2275C>A)
n.2658C>A
c.89C>A (p.Ser30Tyr)
c.2555C>A (p.Ser852Tyr)
c.655+2570C>A (n.655+2570C>A)
c.1168-701C>A (n.1168-701C>A)
c.2486C>A (p.Ser829Tyr)
c.2549C>A (p.Ser850Tyr)
c.2537C>A (p.Ser846Tyr)
 ClinVar
2g.144398630A>CCA348707994ZEB2c.*2406T>G (n.*2406T>G)
c.1780T>G (p.Ser594Ala)
c.2557T>G (p.Ser853Ala)
n.2526T>G
c.2221T>G (p.Ser741Ala)
c.2632T>G (p.Ser878Ala)
c.*2274T>G (n.*2274T>G)
n.2657T>G
c.88T>G (p.Ser30Ala)
c.2554T>G (p.Ser852Ala)
c.655+2569T>G (n.655+2569T>G)
c.1168-702T>G (n.1168-702T>G)
c.2485T>G (p.Ser829Ala)
c.2548T>G (p.Ser850Ala)
c.2536T>G (p.Ser846Ala)
2g.144398630A>GCA348707997ZEB2c.*2406T>C (n.*2406T>C)
c.1780T>C (p.Ser594Pro)
c.2557T>C (p.Ser853Pro)
n.2526T>C
c.2221T>C (p.Ser741Pro)
c.2632T>C (p.Ser878Pro)
c.*2274T>C (n.*2274T>C)
n.2657T>C
c.88T>C (p.Ser30Pro)
c.2554T>C (p.Ser852Pro)
c.655+2569T>C (n.655+2569T>C)
c.1168-702T>C (n.1168-702T>C)
c.2485T>C (p.Ser829Pro)
c.2548T>C (p.Ser850Pro)
c.2536T>C (p.Ser846Pro)
 gnomAD v4
2g.144398630A>TCA348707995ZEB2c.*2406T>A (n.*2406T>A)
c.1780T>A (p.Ser594Thr)
c.2557T>A (p.Ser853Thr)
n.2526T>A
c.2221T>A (p.Ser741Thr)
c.2632T>A (p.Ser878Thr)
c.*2274T>A (n.*2274T>A)
n.2657T>A
c.88T>A (p.Ser30Thr)
c.2554T>A (p.Ser852Thr)
c.655+2569T>A (n.655+2569T>A)
c.1168-702T>A (n.1168-702T>A)
c.2485T>A (p.Ser829Thr)
c.2548T>A (p.Ser850Thr)
c.2536T>A (p.Ser846Thr)
2g.144398631T>ACA429445643ZEB2c.*2405A>T (n.*2405A>T)
c.1779A>T (p.Ser593=)
c.2556A>T (p.Ser852=)
n.2525A>T
c.2220A>T (p.Ser740=)
c.2631A>T (p.Ser877=)
c.*2273A>T (n.*2273A>T)
n.2656A>T
c.87A>T (p.Ser29=)
c.2553A>T (p.Ser851=)
c.655+2568A>T (n.655+2568A>T)
c.1168-703A>T (n.1168-703A>T)
c.2484A>T (p.Ser828=)
c.2547A>T (p.Ser849=)
c.2535A>T (p.Ser845=)
 ClinVar gnomAD v4
2g.144398631T>CCA429445644ZEB2c.*2405A>G (n.*2405A>G)
c.1779A>G (p.Ser593=)
c.2556A>G (p.Ser852=)
n.2525A>G
c.2220A>G (p.Ser740=)
c.2631A>G (p.Ser877=)
c.*2273A>G (n.*2273A>G)
n.2656A>G
c.87A>G (p.Ser29=)
c.2553A>G (p.Ser851=)
c.655+2568A>G (n.655+2568A>G)
c.1168-703A>G (n.1168-703A>G)
c.2484A>G (p.Ser828=)
c.2547A>G (p.Ser849=)
c.2535A>G (p.Ser845=)
2g.144398631T>GCA429445645ZEB2c.*2405A>C (n.*2405A>C)
c.1779A>C (p.Ser593=)
c.2556A>C (p.Ser852=)
n.2525A>C
c.2220A>C (p.Ser740=)
c.2631A>C (p.Ser877=)
c.*2273A>C (n.*2273A>C)
n.2656A>C
c.87A>C (p.Ser29=)
c.2553A>C (p.Ser851=)
c.655+2568A>C (n.655+2568A>C)
c.1168-703A>C (n.1168-703A>C)
c.2484A>C (p.Ser828=)
c.2547A>C (p.Ser849=)
c.2535A>C (p.Ser845=)
2g.144398631_144398634delinsTGAGCA1294884967ZEB2c.*2402_*2405delinsCTCA (n.*2402_*2405delinsCTCA)
c.1776_1779delinsCTCA (p.Ser592=)
c.2553_2556delinsCTCA (p.Ser851=)
n.2522_2525delinsCTCA
c.2217_2220delinsCTCA (p.Ser739=)
c.2628_2631delinsCTCA (p.Ser876=)
c.*2270_*2273delinsCTCA (n.*2270_*2273delinsCTCA)
n.2653_2656delinsCTCA
c.84_87delinsCTCA (p.Ser28=)
c.2550_2553delinsCTCA (p.Ser850=)
c.655+2565_655+2568delinsCTCA (n.655+2565_655+2568delinsCTCA)
c.1168-706_1168-703delinsCTCA (n.1168-706_1168-703delinsCTCA)
c.2481_2484delinsCTCA (p.Ser827=)
c.2544_2547delinsCTCA (p.Ser848=)
c.2532_2535delinsCTCA (p.Ser844=)
2g.144398632G>ACA348707999ZEB2c.*2404C>T (n.*2404C>T)
c.1778C>T (p.Ser593Leu)
c.2555C>T (p.Ser852Leu)
n.2524C>T
c.2219C>T (p.Ser740Leu)
c.2630C>T (p.Ser877Leu)
c.*2272C>T (n.*2272C>T)
n.2655C>T
c.86C>T (p.Ser29Leu)
c.2552C>T (p.Ser851Leu)
c.655+2567C>T (n.655+2567C>T)
c.1168-704C>T (n.1168-704C>T)
c.2483C>T (p.Ser828Leu)
c.2546C>T (p.Ser849Leu)
c.2534C>T (p.Ser845Leu)
 dbSNP gnomAD v4
2g.144398632G>CCA253283ZEB2c.*2404C>G (n.*2404C>G)
c.1778C>G (p.Ser593Ter)
c.2555C>G (p.Ser852Ter)
n.2524C>G
c.2219C>G (p.Ser740Ter)
c.2630C>G (p.Ser877Ter)
c.*2272C>G (n.*2272C>G)
n.2655C>G
c.86C>G (p.Ser29Ter)
c.2552C>G (p.Ser851Ter)
c.655+2567C>G (n.655+2567C>G)
c.1168-704C>G (n.1168-704C>G)
c.2483C>G (p.Ser828Ter)
c.2546C>G (p.Ser849Ter)
c.2534C>G (p.Ser845Ter)
 ClinVar dbSNP
2g.144398632G=CA1294884969ZEB2c.*2404C= (n.*2404C=)
c.1778C= (p.Ser593=)
c.2555C= (p.Ser852=)
n.2524C=
c.2219C= (p.Ser740=)
c.2630C= (p.Ser877=)
c.*2272C= (n.*2272C=)
n.2655C=
c.86C= (p.Ser29=)
c.2552C= (p.Ser851=)
c.655+2567C= (n.655+2567C=)
c.1168-704C= (n.1168-704C=)
c.2483C= (p.Ser828=)
c.2546C= (p.Ser849=)
c.2534C= (p.Ser845=)
2g.144398632G>TCA348708002ZEB2c.*2404C>A (n.*2404C>A)
c.1778C>A (p.Ser593Ter)
c.2555C>A (p.Ser852Ter)
n.2524C>A
c.2219C>A (p.Ser740Ter)
c.2630C>A (p.Ser877Ter)
c.*2272C>A (n.*2272C>A)
n.2655C>A
c.86C>A (p.Ser29Ter)
c.2552C>A (p.Ser851Ter)
c.655+2567C>A (n.655+2567C>A)
c.1168-704C>A (n.1168-704C>A)
c.2483C>A (p.Ser828Ter)
c.2546C>A (p.Ser849Ter)
c.2534C>A (p.Ser845Ter)
2g.144398634_144398636delCA1294884968ZEB2c.*2402_*2404del (n.*2402_*2404del)
c.1776_1778del (p.Ser593del)
c.2553_2555del (p.Ser852del)
n.2522_2524del
c.2217_2219del (p.Ser740del)
c.2628_2630del (p.Ser877del)
c.*2270_*2272del (n.*2270_*2272del)
n.2653_2655del
c.84_86del (p.Ser29del)
c.2550_2552del (p.Ser851del)
c.655+2565_655+2567del (n.655+2565_655+2567del)
c.1168-706_1168-704del (n.1168-706_1168-704del)
c.2481_2483del (p.Ser828del)
c.2544_2546del (p.Ser849del)
c.2532_2534del (p.Ser845del)
 ClinVar dbSNP
2g.144398633A>CCA348708005ZEB2c.*2403T>G (n.*2403T>G)
c.1777T>G (p.Ser593Ala)
c.2554T>G (p.Ser852Ala)
n.2523T>G
c.2218T>G (p.Ser740Ala)
c.2629T>G (p.Ser877Ala)
c.*2271T>G (n.*2271T>G)
n.2654T>G
c.85T>G (p.Ser29Ala)
c.2551T>G (p.Ser851Ala)
c.655+2566T>G (n.655+2566T>G)
c.1168-705T>G (n.1168-705T>G)
c.2482T>G (p.Ser828Ala)
c.2545T>G (p.Ser849Ala)
c.2533T>G (p.Ser845Ala)
2g.144398633A>GCA348708006ZEB2c.*2403T>C (n.*2403T>C)
c.1777T>C (p.Ser593Pro)
c.2554T>C (p.Ser852Pro)
n.2523T>C
c.2218T>C (p.Ser740Pro)
c.2629T>C (p.Ser877Pro)
c.*2271T>C (n.*2271T>C)
n.2654T>C
c.85T>C (p.Ser29Pro)
c.2551T>C (p.Ser851Pro)
c.655+2566T>C (n.655+2566T>C)
c.1168-705T>C (n.1168-705T>C)
c.2482T>C (p.Ser828Pro)
c.2545T>C (p.Ser849Pro)
c.2533T>C (p.Ser845Pro)
2g.144398633A>TCA348708008ZEB2c.*2403T>A (n.*2403T>A)
c.1777T>A (p.Ser593Thr)
c.2554T>A (p.Ser852Thr)
n.2523T>A
c.2218T>A (p.Ser740Thr)
c.2629T>A (p.Ser877Thr)
c.*2271T>A (n.*2271T>A)
n.2654T>A
c.85T>A (p.Ser29Thr)
c.2551T>A (p.Ser851Thr)
c.655+2566T>A (n.655+2566T>A)
c.1168-705T>A (n.1168-705T>A)
c.2482T>A (p.Ser828Thr)
c.2545T>A (p.Ser849Thr)
c.2533T>A (p.Ser845Thr)
2g.144398634G>ACA429445649ZEB2c.*2402C>T (n.*2402C>T)
c.1776C>T (p.Ser592=)
c.2553C>T (p.Ser851=)
n.2522C>T
c.2217C>T (p.Ser739=)
c.2628C>T (p.Ser876=)
c.*2270C>T (n.*2270C>T)
n.2653C>T
c.84C>T (p.Ser28=)
c.2550C>T (p.Ser850=)
c.655+2565C>T (n.655+2565C>T)
c.1168-706C>T (n.1168-706C>T)
c.2481C>T (p.Ser827=)
c.2544C>T (p.Ser848=)
c.2532C>T (p.Ser844=)
2g.144398634G>CCA429445650ZEB2c.*2402C>G (n.*2402C>G)
c.1776C>G (p.Ser592=)
c.2553C>G (p.Ser851=)
n.2522C>G
c.2217C>G (p.Ser739=)
c.2628C>G (p.Ser876=)
c.*2270C>G (n.*2270C>G)
n.2653C>G
c.84C>G (p.Ser28=)
c.2550C>G (p.Ser850=)
c.655+2565C>G (n.655+2565C>G)
c.1168-706C>G (n.1168-706C>G)
c.2481C>G (p.Ser827=)
c.2544C>G (p.Ser848=)
c.2532C>G (p.Ser844=)
 gnomAD v4 COSMIC
2g.144398634G>TCA429445651ZEB2c.*2402C>A (n.*2402C>A)
c.1776C>A (p.Ser592=)
c.2553C>A (p.Ser851=)
n.2522C>A
c.2217C>A (p.Ser739=)
c.2628C>A (p.Ser876=)
c.*2270C>A (n.*2270C>A)
n.2653C>A
c.84C>A (p.Ser28=)
c.2550C>A (p.Ser850=)
c.655+2565C>A (n.655+2565C>A)
c.1168-706C>A (n.1168-706C>A)
c.2481C>A (p.Ser827=)
c.2544C>A (p.Ser848=)
c.2532C>A (p.Ser844=)
2g.144398635G>ACA348708010ZEB2c.*2401C>T (n.*2401C>T)
c.1775C>T (p.Ser592Phe)
c.2552C>T (p.Ser851Phe)
n.2521C>T
c.2216C>T (p.Ser739Phe)
c.2627C>T (p.Ser876Phe)
c.*2269C>T (n.*2269C>T)
n.2652C>T
c.83C>T (p.Ser28Phe)
c.2549C>T (p.Ser850Phe)
c.655+2564C>T (n.655+2564C>T)
c.1168-707C>T (n.1168-707C>T)
c.2480C>T (p.Ser827Phe)
c.2543C>T (p.Ser848Phe)
c.2531C>T (p.Ser844Phe)
2g.144398635G>CCA348708011ZEB2c.*2401C>G (n.*2401C>G)
c.1775C>G (p.Ser592Cys)
c.2552C>G (p.Ser851Cys)
n.2521C>G
c.2216C>G (p.Ser739Cys)
c.2627C>G (p.Ser876Cys)
c.*2269C>G (n.*2269C>G)
n.2652C>G
c.83C>G (p.Ser28Cys)
c.2549C>G (p.Ser850Cys)
c.655+2564C>G (n.655+2564C>G)
c.1168-707C>G (n.1168-707C>G)
c.2480C>G (p.Ser827Cys)
c.2543C>G (p.Ser848Cys)
c.2531C>G (p.Ser844Cys)
2g.144398635G>TCA348708013ZEB2c.*2401C>A (n.*2401C>A)
c.1775C>A (p.Ser592Tyr)
c.2552C>A (p.Ser851Tyr)
n.2521C>A
c.2216C>A (p.Ser739Tyr)
c.2627C>A (p.Ser876Tyr)
c.*2269C>A (n.*2269C>A)
n.2652C>A
c.83C>A (p.Ser28Tyr)
c.2549C>A (p.Ser850Tyr)
c.655+2564C>A (n.655+2564C>A)
c.1168-707C>A (n.1168-707C>A)
c.2480C>A (p.Ser827Tyr)
c.2543C>A (p.Ser848Tyr)
c.2531C>A (p.Ser844Tyr)
2g.144398636A>CCA348708015ZEB2c.*2400T>G (n.*2400T>G)
c.1774T>G (p.Ser592Ala)
c.2551T>G (p.Ser851Ala)
n.2520T>G
c.2215T>G (p.Ser739Ala)
c.2626T>G (p.Ser876Ala)
c.*2268T>G (n.*2268T>G)
n.2651T>G
c.82T>G (p.Ser28Ala)
c.2548T>G (p.Ser850Ala)
c.655+2563T>G (n.655+2563T>G)
c.1168-708T>G (n.1168-708T>G)
c.2479T>G (p.Ser827Ala)
c.2542T>G (p.Ser848Ala)
c.2530T>G (p.Ser844Ala)
2g.144398636A>GCA348708016ZEB2c.*2400T>C (n.*2400T>C)
c.1774T>C (p.Ser592Pro)
c.2551T>C (p.Ser851Pro)
n.2520T>C
c.2215T>C (p.Ser739Pro)
c.2626T>C (p.Ser876Pro)
c.*2268T>C (n.*2268T>C)
n.2651T>C
c.82T>C (p.Ser28Pro)
c.2548T>C (p.Ser850Pro)
c.655+2563T>C (n.655+2563T>C)
c.1168-708T>C (n.1168-708T>C)
c.2479T>C (p.Ser827Pro)
c.2542T>C (p.Ser848Pro)
c.2530T>C (p.Ser844Pro)
2g.144398636A>TCA348708018ZEB2c.*2400T>A (n.*2400T>A)
c.1774T>A (p.Ser592Thr)
c.2551T>A (p.Ser851Thr)
n.2520T>A
c.2215T>A (p.Ser739Thr)
c.2626T>A (p.Ser876Thr)
c.*2268T>A (n.*2268T>A)
n.2651T>A
c.82T>A (p.Ser28Thr)
c.2548T>A (p.Ser850Thr)
c.655+2563T>A (n.655+2563T>A)
c.1168-708T>A (n.1168-708T>A)
c.2479T>A (p.Ser827Thr)
c.2542T>A (p.Ser848Thr)
c.2530T>A (p.Ser844Thr)
2g.144398637A>CCA429445653ZEB2c.*2399T>G (n.*2399T>G)
c.1773T>G (p.Ser591=)
c.2550T>G (p.Ser850=)
n.2519T>G
c.2214T>G (p.Ser738=)
c.2625T>G (p.Ser875=)
c.*2267T>G (n.*2267T>G)
n.2650T>G
c.81T>G (p.Ser27=)
c.2547T>G (p.Ser849=)
c.655+2562T>G (n.655+2562T>G)
c.1168-709T>G (n.1168-709T>G)
c.2478T>G (p.Ser826=)
c.2541T>G (p.Ser847=)
c.2529T>G (p.Ser843=)
 COSMIC
2g.144398637A>GCA429445655ZEB2c.*2399T>C (n.*2399T>C)
c.1773T>C (p.Ser591=)
c.2550T>C (p.Ser850=)
n.2519T>C
c.2214T>C (p.Ser738=)
c.2625T>C (p.Ser875=)
c.*2267T>C (n.*2267T>C)
n.2650T>C
c.81T>C (p.Ser27=)
c.2547T>C (p.Ser849=)
c.655+2562T>C (n.655+2562T>C)
c.1168-709T>C (n.1168-709T>C)
c.2478T>C (p.Ser826=)
c.2541T>C (p.Ser847=)
c.2529T>C (p.Ser843=)
2g.144398637A>TCA429445654ZEB2c.*2399T>A (n.*2399T>A)
c.1773T>A (p.Ser591=)
c.2550T>A (p.Ser850=)
n.2519T>A
c.2214T>A (p.Ser738=)
c.2625T>A (p.Ser875=)
c.*2267T>A (n.*2267T>A)
n.2650T>A
c.81T>A (p.Ser27=)
c.2547T>A (p.Ser849=)
c.655+2562T>A (n.655+2562T>A)
c.1168-709T>A (n.1168-709T>A)
c.2478T>A (p.Ser826=)
c.2541T>A (p.Ser847=)
c.2529T>A (p.Ser843=)
2g.144398638G>ACA297637ZEB2c.*2398C>T (n.*2398C>T)
c.1772C>T (p.Ser591Phe)
c.2549C>T (p.Ser850Phe)
n.2518C>T
c.2213C>T (p.Ser738Phe)
c.2624C>T (p.Ser875Phe)
c.*2266C>T (n.*2266C>T)
n.2649C>T
c.80C>T (p.Ser27Phe)
c.2546C>T (p.Ser849Phe)
c.655+2561C>T (n.655+2561C>T)
c.1168-710C>T (n.1168-710C>T)
c.2477C>T (p.Ser826Phe)
c.2540C>T (p.Ser847Phe)
c.2528C>T (p.Ser843Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.144398638G>CCA348708021ZEB2c.*2398C>G (n.*2398C>G)
c.1772C>G (p.Ser591Cys)
c.2549C>G (p.Ser850Cys)
n.2518C>G
c.2213C>G (p.Ser738Cys)
c.2624C>G (p.Ser875Cys)
c.*2266C>G (n.*2266C>G)
n.2649C>G
c.80C>G (p.Ser27Cys)
c.2546C>G (p.Ser849Cys)
c.655+2561C>G (n.655+2561C>G)
c.1168-710C>G (n.1168-710C>G)
c.2477C>G (p.Ser826Cys)
c.2540C>G (p.Ser847Cys)
c.2528C>G (p.Ser843Cys)
2g.144398638G=CA1294884970ZEB2c.*2398C= (n.*2398C=)
c.1772C= (p.Ser591=)
c.2549C= (p.Ser850=)
n.2518C=
c.2213C= (p.Ser738=)
c.2624C= (p.Ser875=)
c.*2266C= (n.*2266C=)
n.2649C=
c.80C= (p.Ser27=)
c.2546C= (p.Ser849=)
c.655+2561C= (n.655+2561C=)
c.1168-710C= (n.1168-710C=)
c.2477C= (p.Ser826=)
c.2540C= (p.Ser847=)
c.2528C= (p.Ser843=)
2g.144398638G>TCA1898232ZEB2c.*2398C>A (n.*2398C>A)
c.1772C>A (p.Ser591Tyr)
c.2549C>A (p.Ser850Tyr)
n.2518C>A
c.2213C>A (p.Ser738Tyr)
c.2624C>A (p.Ser875Tyr)
c.*2266C>A (n.*2266C>A)
n.2649C>A
c.80C>A (p.Ser27Tyr)
c.2546C>A (p.Ser849Tyr)
c.655+2561C>A (n.655+2561C>A)
c.1168-710C>A (n.1168-710C>A)
c.2477C>A (p.Ser826Tyr)
c.2540C>A (p.Ser847Tyr)
c.2528C>A (p.Ser843Tyr)
 ClinVar dbSNP ExAC gnomAD v4
2g.144398639A=CA1294884971ZEB2c.*2397T= (n.*2397T=)
c.1771T= (p.Ser591=)
c.2548T= (p.Ser850=)
n.2517T=
c.2212T= (p.Ser738=)
c.2623T= (p.Ser875=)
c.*2265T= (n.*2265T=)
n.2648T=
c.79T= (p.Ser27=)
c.2545T= (p.Ser849=)
c.655+2560T= (n.655+2560T=)
c.1168-711T= (n.1168-711T=)
c.2476T= (p.Ser826=)
c.2539T= (p.Ser847=)
c.2527T= (p.Ser843=)
2g.144398639A>CCA348708025ZEB2c.*2397T>G (n.*2397T>G)
c.1771T>G (p.Ser591Ala)
c.2548T>G (p.Ser850Ala)
n.2517T>G
c.2212T>G (p.Ser738Ala)
c.2623T>G (p.Ser875Ala)
c.*2265T>G (n.*2265T>G)
n.2648T>G
c.79T>G (p.Ser27Ala)
c.2545T>G (p.Ser849Ala)
c.655+2560T>G (n.655+2560T>G)
c.1168-711T>G (n.1168-711T>G)
c.2476T>G (p.Ser826Ala)
c.2539T>G (p.Ser847Ala)
c.2527T>G (p.Ser843Ala)
2g.144398639A>GCA1898233ZEB2c.*2397T>C (n.*2397T>C)
c.1771T>C (p.Ser591Pro)
c.2548T>C (p.Ser850Pro)
n.2517T>C
c.2212T>C (p.Ser738Pro)
c.2623T>C (p.Ser875Pro)
c.*2265T>C (n.*2265T>C)
n.2648T>C
c.79T>C (p.Ser27Pro)
c.2545T>C (p.Ser849Pro)
c.655+2560T>C (n.655+2560T>C)
c.1168-711T>C (n.1168-711T>C)
c.2476T>C (p.Ser826Pro)
c.2539T>C (p.Ser847Pro)
c.2527T>C (p.Ser843Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398639A>TCA348708027ZEB2c.*2397T>A (n.*2397T>A)
c.1771T>A (p.Ser591Thr)
c.2548T>A (p.Ser850Thr)
n.2517T>A
c.2212T>A (p.Ser738Thr)
c.2623T>A (p.Ser875Thr)
c.*2265T>A (n.*2265T>A)
n.2648T>A
c.79T>A (p.Ser27Thr)
c.2545T>A (p.Ser849Thr)
c.655+2560T>A (n.655+2560T>A)
c.1168-711T>A (n.1168-711T>A)
c.2476T>A (p.Ser826Thr)
c.2539T>A (p.Ser847Thr)
c.2527T>A (p.Ser843Thr)
2g.144398640A=CA1294884972ZEB2c.*2396T= (n.*2396T=)
c.1770T= (p.Val590=)
c.2547T= (p.Val849=)
n.2516T=
c.2211T= (p.Val737=)
c.2622T= (p.Val874=)
c.*2264T= (n.*2264T=)
n.2647T=
c.78T= (p.Val26=)
c.2544T= (p.Val848=)
c.655+2559T= (n.655+2559T=)
c.1168-712T= (n.1168-712T=)
c.2475T= (p.Val825=)
c.2538T= (p.Val846=)
c.2526T= (p.Val842=)
2g.144398640A>CCA429445657ZEB2c.*2396T>G (n.*2396T>G)
c.1770T>G (p.Val590=)
c.2547T>G (p.Val849=)
n.2516T>G
c.2211T>G (p.Val737=)
c.2622T>G (p.Val874=)
c.*2264T>G (n.*2264T>G)
n.2647T>G
c.78T>G (p.Val26=)
c.2544T>G (p.Val848=)
c.655+2559T>G (n.655+2559T>G)
c.1168-712T>G (n.1168-712T>G)
c.2475T>G (p.Val825=)
c.2538T>G (p.Val846=)
c.2526T>G (p.Val842=)
 ClinVar dbSNP gnomAD v4
2g.144398640A>GCA57554976ZEB2c.*2396T>C (n.*2396T>C)
c.1770T>C (p.Val590=)
c.2547T>C (p.Val849=)
n.2516T>C
c.2211T>C (p.Val737=)
c.2622T>C (p.Val874=)
c.*2264T>C (n.*2264T>C)
n.2647T>C
c.78T>C (p.Val26=)
c.2544T>C (p.Val848=)
c.655+2559T>C (n.655+2559T>C)
c.1168-712T>C (n.1168-712T>C)
c.2475T>C (p.Val825=)
c.2538T>C (p.Val846=)
c.2526T>C (p.Val842=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398640A>TCA429445658ZEB2c.*2396T>A (n.*2396T>A)
c.1770T>A (p.Val590=)
c.2547T>A (p.Val849=)
n.2516T>A
c.2211T>A (p.Val737=)
c.2622T>A (p.Val874=)
c.*2264T>A (n.*2264T>A)
n.2647T>A
c.78T>A (p.Val26=)
c.2544T>A (p.Val848=)
c.655+2559T>A (n.655+2559T>A)
c.1168-712T>A (n.1168-712T>A)
c.2475T>A (p.Val825=)
c.2538T>A (p.Val846=)
c.2526T>A (p.Val842=)
2g.144398641A>CCA348708029ZEB2c.*2395T>G (n.*2395T>G)
c.1769T>G (p.Val590Gly)
c.2546T>G (p.Val849Gly)
n.2515T>G
c.2210T>G (p.Val737Gly)
c.2621T>G (p.Val874Gly)
c.*2263T>G (n.*2263T>G)
n.2646T>G
c.77T>G (p.Val26Gly)
c.2543T>G (p.Val848Gly)
c.655+2558T>G (n.655+2558T>G)
c.1168-713T>G (n.1168-713T>G)
c.2474T>G (p.Val825Gly)
c.2537T>G (p.Val846Gly)
c.2525T>G (p.Val842Gly)
2g.144398641A>GCA348708031ZEB2c.*2395T>C (n.*2395T>C)
c.1769T>C (p.Val590Ala)
c.2546T>C (p.Val849Ala)
n.2515T>C
c.2210T>C (p.Val737Ala)
c.2621T>C (p.Val874Ala)
c.*2263T>C (n.*2263T>C)
n.2646T>C
c.77T>C (p.Val26Ala)
c.2543T>C (p.Val848Ala)
c.655+2558T>C (n.655+2558T>C)
c.1168-713T>C (n.1168-713T>C)
c.2474T>C (p.Val825Ala)
c.2537T>C (p.Val846Ala)
c.2525T>C (p.Val842Ala)
2g.144398641A>TCA348708033ZEB2c.*2395T>A (n.*2395T>A)
c.1769T>A (p.Val590Asp)
c.2546T>A (p.Val849Asp)
n.2515T>A
c.2210T>A (p.Val737Asp)
c.2621T>A (p.Val874Asp)
c.*2263T>A (n.*2263T>A)
n.2646T>A
c.77T>A (p.Val26Asp)
c.2543T>A (p.Val848Asp)
c.655+2558T>A (n.655+2558T>A)
c.1168-713T>A (n.1168-713T>A)
c.2474T>A (p.Val825Asp)
c.2537T>A (p.Val846Asp)
c.2525T>A (p.Val842Asp)
2g.144398642C>ACA348708035ZEB2c.*2394G>T (n.*2394G>T)
c.1768G>T (p.Val590Phe)
c.2545G>T (p.Val849Phe)
n.2514G>T
c.2209G>T (p.Val737Phe)
c.2620G>T (p.Val874Phe)
c.*2262G>T (n.*2262G>T)
n.2645G>T
c.76G>T (p.Val26Phe)
c.2542G>T (p.Val848Phe)
c.655+2557G>T (n.655+2557G>T)
c.1168-714G>T (n.1168-714G>T)
c.2473G>T (p.Val825Phe)
c.2536G>T (p.Val846Phe)
c.2524G>T (p.Val842Phe)
2g.144398642C=CA1294884973ZEB2c.*2394G= (n.*2394G=)
c.1768G= (p.Val590=)
c.2545G= (p.Val849=)
n.2514G=
c.2209G= (p.Val737=)
c.2620G= (p.Val874=)
c.*2262G= (n.*2262G=)
n.2645G=
c.76G= (p.Val26=)
c.2542G= (p.Val848=)
c.655+2557G= (n.655+2557G=)
c.1168-714G= (n.1168-714G=)
c.2473G= (p.Val825=)
c.2536G= (p.Val846=)
c.2524G= (p.Val842=)
2g.144398642C>GCA348708036ZEB2c.*2394G>C (n.*2394G>C)
c.1768G>C (p.Val590Leu)
c.2545G>C (p.Val849Leu)
n.2514G>C
c.2209G>C (p.Val737Leu)
c.2620G>C (p.Val874Leu)
c.*2262G>C (n.*2262G>C)
n.2645G>C
c.76G>C (p.Val26Leu)
c.2542G>C (p.Val848Leu)
c.655+2557G>C (n.655+2557G>C)
c.1168-714G>C (n.1168-714G>C)
c.2473G>C (p.Val825Leu)
c.2536G>C (p.Val846Leu)
c.2524G>C (p.Val842Leu)
2g.144398642C>TCA348708037ZEB2c.*2394G>A (n.*2394G>A)
c.1768G>A (p.Val590Ile)
c.2545G>A (p.Val849Ile)
n.2514G>A
c.2209G>A (p.Val737Ile)
c.2620G>A (p.Val874Ile)
c.*2262G>A (n.*2262G>A)
n.2645G>A
c.76G>A (p.Val26Ile)
c.2542G>A (p.Val848Ile)
c.655+2557G>A (n.655+2557G>A)
c.1168-714G>A (n.1168-714G>A)
c.2473G>A (p.Val825Ile)
c.2536G>A (p.Val846Ile)
c.2524G>A (p.Val842Ile)
 ClinVar dbSNP gnomAD v4
2g.144398643A>CCA348708039ZEB2c.*2393T>G (n.*2393T>G)
c.1767T>G (p.Ser589Arg)
c.2544T>G (p.Ser848Arg)
n.2513T>G
c.2208T>G (p.Ser736Arg)
c.2619T>G (p.Ser873Arg)
c.*2261T>G (n.*2261T>G)
n.2644T>G
c.75T>G (p.Ser25Arg)
c.2541T>G (p.Ser847Arg)
c.655+2556T>G (n.655+2556T>G)
c.1168-715T>G (n.1168-715T>G)
c.2472T>G (p.Ser824Arg)
c.2535T>G (p.Ser845Arg)
c.2523T>G (p.Ser841Arg)
2g.144398643A>GCA429445660ZEB2c.*2393T>C (n.*2393T>C)
c.1767T>C (p.Ser589=)
c.2544T>C (p.Ser848=)
n.2513T>C
c.2208T>C (p.Ser736=)
c.2619T>C (p.Ser873=)
c.*2261T>C (n.*2261T>C)
n.2644T>C
c.75T>C (p.Ser25=)
c.2541T>C (p.Ser847=)
c.655+2556T>C (n.655+2556T>C)
c.1168-715T>C (n.1168-715T>C)
c.2472T>C (p.Ser824=)
c.2535T>C (p.Ser845=)
c.2523T>C (p.Ser841=)
2g.144398643A>TCA348708038ZEB2c.*2393T>A (n.*2393T>A)
c.1767T>A (p.Ser589Arg)
c.2544T>A (p.Ser848Arg)
n.2513T>A
c.2208T>A (p.Ser736Arg)
c.2619T>A (p.Ser873Arg)
c.*2261T>A (n.*2261T>A)
n.2644T>A
c.75T>A (p.Ser25Arg)
c.2541T>A (p.Ser847Arg)
c.655+2556T>A (n.655+2556T>A)
c.1168-715T>A (n.1168-715T>A)
c.2472T>A (p.Ser824Arg)
c.2535T>A (p.Ser845Arg)
c.2523T>A (p.Ser841Arg)
2g.144398644C>ACA348708040ZEB2c.*2392G>T (n.*2392G>T)
c.1766G>T (p.Ser589Ile)
c.2543G>T (p.Ser848Ile)
n.2512G>T
c.2207G>T (p.Ser736Ile)
c.2618G>T (p.Ser873Ile)
c.*2260G>T (n.*2260G>T)
n.2643G>T
c.74G>T (p.Ser25Ile)
c.2540G>T (p.Ser847Ile)
c.655+2555G>T (n.655+2555G>T)
c.1168-716G>T (n.1168-716G>T)
c.2471G>T (p.Ser824Ile)
c.2534G>T (p.Ser845Ile)
c.2522G>T (p.Ser841Ile)
 ClinVar dbSNP
2g.144398644C=CA1294884974ZEB2c.*2392G= (n.*2392G=)
c.1766G= (p.Ser589=)
c.2543G= (p.Ser848=)
n.2512G=
c.2207G= (p.Ser736=)
c.2618G= (p.Ser873=)
c.*2260G= (n.*2260G=)
n.2643G=
c.74G= (p.Ser25=)
c.2540G= (p.Ser847=)
c.655+2555G= (n.655+2555G=)
c.1168-716G= (n.1168-716G=)
c.2471G= (p.Ser824=)
c.2534G= (p.Ser845=)
c.2522G= (p.Ser841=)
2g.144398644C>GCA348708041ZEB2c.*2392G>C (n.*2392G>C)
c.1766G>C (p.Ser589Thr)
c.2543G>C (p.Ser848Thr)
n.2512G>C
c.2207G>C (p.Ser736Thr)
c.2618G>C (p.Ser873Thr)
c.*2260G>C (n.*2260G>C)
n.2643G>C
c.74G>C (p.Ser25Thr)
c.2540G>C (p.Ser847Thr)
c.655+2555G>C (n.655+2555G>C)
c.1168-716G>C (n.1168-716G>C)
c.2471G>C (p.Ser824Thr)
c.2534G>C (p.Ser845Thr)
c.2522G>C (p.Ser841Thr)
2g.144398644C>TCA348708042ZEB2c.*2392G>A (n.*2392G>A)
c.1766G>A (p.Ser589Asn)
c.2543G>A (p.Ser848Asn)
n.2512G>A
c.2207G>A (p.Ser736Asn)
c.2618G>A (p.Ser873Asn)
c.*2260G>A (n.*2260G>A)
n.2643G>A
c.74G>A (p.Ser25Asn)
c.2540G>A (p.Ser847Asn)
c.655+2555G>A (n.655+2555G>A)
c.1168-716G>A (n.1168-716G>A)
c.2471G>A (p.Ser824Asn)
c.2534G>A (p.Ser845Asn)
c.2522G>A (p.Ser841Asn)
 ClinVar dbSNP gnomAD v4
2g.144398645T>ACA348708043ZEB2c.*2391A>T (n.*2391A>T)
c.1765A>T (p.Ser589Cys)
c.2542A>T (p.Ser848Cys)
n.2511A>T
c.2206A>T (p.Ser736Cys)
c.2617A>T (p.Ser873Cys)
c.*2259A>T (n.*2259A>T)
n.2642A>T
c.73A>T (p.Ser25Cys)
c.2539A>T (p.Ser847Cys)
c.655+2554A>T (n.655+2554A>T)
c.1168-717A>T (n.1168-717A>T)
c.2470A>T (p.Ser824Cys)
c.2533A>T (p.Ser845Cys)
c.2521A>T (p.Ser841Cys)
2g.144398645T>CCA348708044ZEB2c.*2391A>G (n.*2391A>G)
c.1765A>G (p.Ser589Gly)
c.2542A>G (p.Ser848Gly)
n.2511A>G
c.2206A>G (p.Ser736Gly)
c.2617A>G (p.Ser873Gly)
c.*2259A>G (n.*2259A>G)
n.2642A>G
c.73A>G (p.Ser25Gly)
c.2539A>G (p.Ser847Gly)
c.655+2554A>G (n.655+2554A>G)
c.1168-717A>G (n.1168-717A>G)
c.2470A>G (p.Ser824Gly)
c.2533A>G (p.Ser845Gly)
c.2521A>G (p.Ser841Gly)
2g.144398645T>GCA348708045ZEB2c.*2391A>C (n.*2391A>C)
c.1765A>C (p.Ser589Arg)
c.2542A>C (p.Ser848Arg)
n.2511A>C
c.2206A>C (p.Ser736Arg)
c.2617A>C (p.Ser873Arg)
c.*2259A>C (n.*2259A>C)
n.2642A>C
c.73A>C (p.Ser25Arg)
c.2539A>C (p.Ser847Arg)
c.655+2554A>C (n.655+2554A>C)
c.1168-717A>C (n.1168-717A>C)
c.2470A>C (p.Ser824Arg)
c.2533A>C (p.Ser845Arg)
c.2521A>C (p.Ser841Arg)
 gnomAD v4
2g.144398646G>ACA1898235ZEB2c.*2390C>T (n.*2390C>T)
c.1764C>T (p.Asn588=)
c.2541C>T (p.Asn847=)
n.2510C>T
c.2205C>T (p.Asn735=)
c.2616C>T (p.Asn872=)
c.*2258C>T (n.*2258C>T)
n.2641C>T
c.72C>T (p.Asn24=)
c.2538C>T (p.Asn846=)
c.655+2553C>T (n.655+2553C>T)
c.1168-718C>T (n.1168-718C>T)
c.2469C>T (p.Asn823=)
c.2532C>T (p.Asn844=)
c.2520C>T (p.Asn840=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398646G>CCA348708046ZEB2c.*2390C>G (n.*2390C>G)
c.1764C>G (p.Asn588Lys)
c.2541C>G (p.Asn847Lys)
n.2510C>G
c.2205C>G (p.Asn735Lys)
c.2616C>G (p.Asn872Lys)
c.*2258C>G (n.*2258C>G)
n.2641C>G
c.72C>G (p.Asn24Lys)
c.2538C>G (p.Asn846Lys)
c.655+2553C>G (n.655+2553C>G)
c.1168-718C>G (n.1168-718C>G)
c.2469C>G (p.Asn823Lys)
c.2532C>G (p.Asn844Lys)
c.2520C>G (p.Asn840Lys)
 gnomAD v4
2g.144398646G=CA1294884975ZEB2c.*2390C= (n.*2390C=)
c.1764C= (p.Asn588=)
c.2541C= (p.Asn847=)
n.2510C=
c.2205C= (p.Asn735=)
c.2616C= (p.Asn872=)
c.*2258C= (n.*2258C=)
n.2641C=
c.72C= (p.Asn24=)
c.2538C= (p.Asn846=)
c.655+2553C= (n.655+2553C=)
c.1168-718C= (n.1168-718C=)
c.2469C= (p.Asn823=)
c.2532C= (p.Asn844=)
c.2520C= (p.Asn840=)
2g.144398646G>TCA1898234ZEB2c.*2390C>A (n.*2390C>A)
c.1764C>A (p.Asn588Lys)
c.2541C>A (p.Asn847Lys)
n.2510C>A
c.2205C>A (p.Asn735Lys)
c.2616C>A (p.Asn872Lys)
c.*2258C>A (n.*2258C>A)
n.2641C>A
c.72C>A (p.Asn24Lys)
c.2538C>A (p.Asn846Lys)
c.655+2553C>A (n.655+2553C>A)
c.1168-718C>A (n.1168-718C>A)
c.2469C>A (p.Asn823Lys)
c.2532C>A (p.Asn844Lys)
c.2520C>A (p.Asn840Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398647T>ACA348708047ZEB2c.*2389A>T (n.*2389A>T)
c.1763A>T (p.Asn588Ile)
c.2540A>T (p.Asn847Ile)
n.2509A>T
c.2204A>T (p.Asn735Ile)
c.2615A>T (p.Asn872Ile)
c.*2257A>T (n.*2257A>T)
n.2640A>T
c.71A>T (p.Asn24Ile)
c.2537A>T (p.Asn846Ile)
c.655+2552A>T (n.655+2552A>T)
c.1168-719A>T (n.1168-719A>T)
c.2468A>T (p.Asn823Ile)
c.2531A>T (p.Asn844Ile)
c.2519A>T (p.Asn840Ile)
2g.144398647T>CCA348708048ZEB2c.*2389A>G (n.*2389A>G)
c.1763A>G (p.Asn588Ser)
c.2540A>G (p.Asn847Ser)
n.2509A>G
c.2204A>G (p.Asn735Ser)
c.2615A>G (p.Asn872Ser)
c.*2257A>G (n.*2257A>G)
n.2640A>G
c.71A>G (p.Asn24Ser)
c.2537A>G (p.Asn846Ser)
c.655+2552A>G (n.655+2552A>G)
c.1168-719A>G (n.1168-719A>G)
c.2468A>G (p.Asn823Ser)
c.2531A>G (p.Asn844Ser)
c.2519A>G (p.Asn840Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.144398647T>GCA348708049ZEB2c.*2389A>C (n.*2389A>C)
c.1763A>C (p.Asn588Thr)
c.2540A>C (p.Asn847Thr)
n.2509A>C
c.2204A>C (p.Asn735Thr)
c.2615A>C (p.Asn872Thr)
c.*2257A>C (n.*2257A>C)
n.2640A>C
c.71A>C (p.Asn24Thr)
c.2537A>C (p.Asn846Thr)
c.655+2552A>C (n.655+2552A>C)
c.1168-719A>C (n.1168-719A>C)
c.2468A>C (p.Asn823Thr)
c.2531A>C (p.Asn844Thr)
c.2519A>C (p.Asn840Thr)
 COSMIC
2g.144398647T=CA1294884976ZEB2c.*2389A= (n.*2389A=)
c.1763A= (p.Asn588=)
c.2540A= (p.Asn847=)
n.2509A=
c.2204A= (p.Asn735=)
c.2615A= (p.Asn872=)
c.*2257A= (n.*2257A=)
n.2640A=
c.71A= (p.Asn24=)
c.2537A= (p.Asn846=)
c.655+2552A= (n.655+2552A=)
c.1168-719A= (n.1168-719A=)
c.2468A= (p.Asn823=)
c.2531A= (p.Asn844=)
c.2519A= (p.Asn840=)
2g.144398648T>ACA348708052ZEB2c.*2388A>T (n.*2388A>T)
c.1762A>T (p.Asn588Tyr)
c.2539A>T (p.Asn847Tyr)
n.2508A>T
c.2203A>T (p.Asn735Tyr)
c.2614A>T (p.Asn872Tyr)
c.*2256A>T (n.*2256A>T)
n.2639A>T
c.70A>T (p.Asn24Tyr)
c.2536A>T (p.Asn846Tyr)
c.655+2551A>T (n.655+2551A>T)
c.1168-720A>T (n.1168-720A>T)
c.2467A>T (p.Asn823Tyr)
c.2530A>T (p.Asn844Tyr)
c.2518A>T (p.Asn840Tyr)
2g.144398648T>CCA348708051ZEB2c.*2388A>G (n.*2388A>G)
c.1762A>G (p.Asn588Asp)
c.2539A>G (p.Asn847Asp)
n.2508A>G
c.2203A>G (p.Asn735Asp)
c.2614A>G (p.Asn872Asp)
c.*2256A>G (n.*2256A>G)
n.2639A>G
c.70A>G (p.Asn24Asp)
c.2536A>G (p.Asn846Asp)
c.655+2551A>G (n.655+2551A>G)
c.1168-720A>G (n.1168-720A>G)
c.2467A>G (p.Asn823Asp)
c.2530A>G (p.Asn844Asp)
c.2518A>G (p.Asn840Asp)
2g.144398648T>GCA348708050ZEB2c.*2388A>C (n.*2388A>C)
c.1762A>C (p.Asn588His)
c.2539A>C (p.Asn847His)
n.2508A>C
c.2203A>C (p.Asn735His)
c.2614A>C (p.Asn872His)
c.*2256A>C (n.*2256A>C)
n.2639A>C
c.70A>C (p.Asn24His)
c.2536A>C (p.Asn846His)
c.655+2551A>C (n.655+2551A>C)
c.1168-720A>C (n.1168-720A>C)
c.2467A>C (p.Asn823His)
c.2530A>C (p.Asn844His)
c.2518A>C (p.Asn840His)
 ClinVar gnomAD v4
2g.144398649A=CA1294884977ZEB2c.*2387T= (n.*2387T=)
c.1761T= (p.His587=)
c.2538T= (p.His846=)
n.2507T=
c.2202T= (p.His734=)
c.2613T= (p.His871=)
c.*2255T= (n.*2255T=)
n.2638T=
c.69T= (p.His23=)
c.2535T= (p.His845=)
c.655+2550T= (n.655+2550T=)
c.1168-721T= (n.1168-721T=)
c.2466T= (p.His822=)
c.2529T= (p.His843=)
c.2517T= (p.His839=)
2g.144398649A>CCA348708053ZEB2c.*2387T>G (n.*2387T>G)
c.1761T>G (p.His587Gln)
c.2538T>G (p.His846Gln)
n.2507T>G
c.2202T>G (p.His734Gln)
c.2613T>G (p.His871Gln)
c.*2255T>G (n.*2255T>G)
n.2638T>G
c.69T>G (p.His23Gln)
c.2535T>G (p.His845Gln)
c.655+2550T>G (n.655+2550T>G)
c.1168-721T>G (n.1168-721T>G)
c.2466T>G (p.His822Gln)
c.2529T>G (p.His843Gln)
c.2517T>G (p.His839Gln)
2g.144398649A>GCA429445664ZEB2c.*2387T>C (n.*2387T>C)
c.1761T>C (p.His587=)
c.2538T>C (p.His846=)
n.2507T>C
c.2202T>C (p.His734=)
c.2613T>C (p.His871=)
c.*2255T>C (n.*2255T>C)
n.2638T>C
c.69T>C (p.His23=)
c.2535T>C (p.His845=)
c.655+2550T>C (n.655+2550T>C)
c.1168-721T>C (n.1168-721T>C)
c.2466T>C (p.His822=)
c.2529T>C (p.His843=)
c.2517T>C (p.His839=)
 ClinVar gnomAD v4
2g.144398649A>TCA1898236ZEB2c.*2387T>A (n.*2387T>A)
c.1761T>A (p.His587Gln)
c.2538T>A (p.His846Gln)
n.2507T>A
c.2202T>A (p.His734Gln)
c.2613T>A (p.His871Gln)
c.*2255T>A (n.*2255T>A)
n.2638T>A
c.69T>A (p.His23Gln)
c.2535T>A (p.His845Gln)
c.655+2550T>A (n.655+2550T>A)
c.1168-721T>A (n.1168-721T>A)
c.2466T>A (p.His822Gln)
c.2529T>A (p.His843Gln)
c.2517T>A (p.His839Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398650T>ACA348708054ZEB2c.*2386A>T (n.*2386A>T)
c.1760A>T (p.His587Leu)
c.2537A>T (p.His846Leu)
n.2506A>T
c.2201A>T (p.His734Leu)
c.2612A>T (p.His871Leu)
c.*2254A>T (n.*2254A>T)
n.2637A>T
c.68A>T (p.His23Leu)
c.2534A>T (p.His845Leu)
c.655+2549A>T (n.655+2549A>T)
c.1168-722A>T (n.1168-722A>T)
c.2465A>T (p.His822Leu)
c.2528A>T (p.His843Leu)
c.2516A>T (p.His839Leu)
2g.144398650T>CCA348708055ZEB2c.*2386A>G (n.*2386A>G)
c.1760A>G (p.His587Arg)
c.2537A>G (p.His846Arg)
n.2506A>G
c.2201A>G (p.His734Arg)
c.2612A>G (p.His871Arg)
c.*2254A>G (n.*2254A>G)
n.2637A>G
c.68A>G (p.His23Arg)
c.2534A>G (p.His845Arg)
c.655+2549A>G (n.655+2549A>G)
c.1168-722A>G (n.1168-722A>G)
c.2465A>G (p.His822Arg)
c.2528A>G (p.His843Arg)
c.2516A>G (p.His839Arg)
 ClinVar
2g.144398650T>GCA348708056ZEB2c.*2386A>C (n.*2386A>C)
c.1760A>C (p.His587Pro)
c.2537A>C (p.His846Pro)
n.2506A>C
c.2201A>C (p.His734Pro)
c.2612A>C (p.His871Pro)
c.*2254A>C (n.*2254A>C)
n.2637A>C
c.68A>C (p.His23Pro)
c.2534A>C (p.His845Pro)
c.655+2549A>C (n.655+2549A>C)
c.1168-722A>C (n.1168-722A>C)
c.2465A>C (p.His822Pro)
c.2528A>C (p.His843Pro)
c.2516A>C (p.His839Pro)
2g.144398651G>ACA348708057ZEB2c.*2385C>T (n.*2385C>T)
c.1759C>T (p.His587Tyr)
c.2536C>T (p.His846Tyr)
n.2505C>T
c.2200C>T (p.His734Tyr)
c.2611C>T (p.His871Tyr)
c.*2253C>T (n.*2253C>T)
n.2636C>T
c.67C>T (p.His23Tyr)
c.2533C>T (p.His845Tyr)
c.655+2548C>T (n.655+2548C>T)
c.1168-723C>T (n.1168-723C>T)
c.2464C>T (p.His822Tyr)
c.2527C>T (p.His843Tyr)
c.2515C>T (p.His839Tyr)
2g.144398651G>CCA348708058ZEB2c.*2385C>G (n.*2385C>G)
c.1759C>G (p.His587Asp)
c.2536C>G (p.His846Asp)
n.2505C>G
c.2200C>G (p.His734Asp)
c.2611C>G (p.His871Asp)
c.*2253C>G (n.*2253C>G)
n.2636C>G
c.67C>G (p.His23Asp)
c.2533C>G (p.His845Asp)
c.655+2548C>G (n.655+2548C>G)
c.1168-723C>G (n.1168-723C>G)
c.2464C>G (p.His822Asp)
c.2527C>G (p.His843Asp)
c.2515C>G (p.His839Asp)
2g.144398651G>TCA348708059ZEB2c.*2385C>A (n.*2385C>A)
c.1759C>A (p.His587Asn)
c.2536C>A (p.His846Asn)
n.2505C>A
c.2200C>A (p.His734Asn)
c.2611C>A (p.His871Asn)
c.*2253C>A (n.*2253C>A)
n.2636C>A
c.67C>A (p.His23Asn)
c.2533C>A (p.His845Asn)
c.655+2548C>A (n.655+2548C>A)
c.1168-723C>A (n.1168-723C>A)
c.2464C>A (p.His822Asn)
c.2527C>A (p.His843Asn)
c.2515C>A (p.His839Asn)
 COSMIC
2g.144398652A>CCA348708060ZEB2c.*2384T>G (n.*2384T>G)
c.1758T>G (p.Asp586Glu)
c.2535T>G (p.Asp845Glu)
n.2504T>G
c.2199T>G (p.Asp733Glu)
c.2610T>G (p.Asp870Glu)
c.*2252T>G (n.*2252T>G)
n.2635T>G
c.66T>G (p.Asp22Glu)
c.2532T>G (p.Asp844Glu)
c.655+2547T>G (n.655+2547T>G)
c.1168-724T>G (n.1168-724T>G)
c.2463T>G (p.Asp821Glu)
c.2526T>G (p.Asp842Glu)
c.2514T>G (p.Asp838Glu)
2g.144398652A>GCA429445668ZEB2c.*2384T>C (n.*2384T>C)
c.1758T>C (p.Asp586=)
c.2535T>C (p.Asp845=)
n.2504T>C
c.2199T>C (p.Asp733=)
c.2610T>C (p.Asp870=)
c.*2252T>C (n.*2252T>C)
n.2635T>C
c.66T>C (p.Asp22=)
c.2532T>C (p.Asp844=)
c.655+2547T>C (n.655+2547T>C)
c.1168-724T>C (n.1168-724T>C)
c.2463T>C (p.Asp821=)
c.2526T>C (p.Asp842=)
c.2514T>C (p.Asp838=)
2g.144398652A>TCA348708061ZEB2c.*2384T>A (n.*2384T>A)
c.1758T>A (p.Asp586Glu)
c.2535T>A (p.Asp845Glu)
n.2504T>A
c.2199T>A (p.Asp733Glu)
c.2610T>A (p.Asp870Glu)
c.*2252T>A (n.*2252T>A)
n.2635T>A
c.66T>A (p.Asp22Glu)
c.2532T>A (p.Asp844Glu)
c.655+2547T>A (n.655+2547T>A)
c.1168-724T>A (n.1168-724T>A)
c.2463T>A (p.Asp821Glu)
c.2526T>A (p.Asp842Glu)
c.2514T>A (p.Asp838Glu)
2g.144398653T>ACA348708062ZEB2c.*2383A>T (n.*2383A>T)
c.1757A>T (p.Asp586Val)
c.2534A>T (p.Asp845Val)
n.2503A>T
c.2198A>T (p.Asp733Val)
c.2609A>T (p.Asp870Val)
c.*2251A>T (n.*2251A>T)
n.2634A>T
c.65A>T (p.Asp22Val)
c.2531A>T (p.Asp844Val)
c.655+2546A>T (n.655+2546A>T)
c.1168-725A>T (n.1168-725A>T)
c.2462A>T (p.Asp821Val)
c.2525A>T (p.Asp842Val)
c.2513A>T (p.Asp838Val)
2g.144398653T>CCA348708063ZEB2c.*2383A>G (n.*2383A>G)
c.1757A>G (p.Asp586Gly)
c.2534A>G (p.Asp845Gly)
n.2503A>G
c.2198A>G (p.Asp733Gly)
c.2609A>G (p.Asp870Gly)
c.*2251A>G (n.*2251A>G)
n.2634A>G
c.65A>G (p.Asp22Gly)
c.2531A>G (p.Asp844Gly)
c.655+2546A>G (n.655+2546A>G)
c.1168-725A>G (n.1168-725A>G)
c.2462A>G (p.Asp821Gly)
c.2525A>G (p.Asp842Gly)
c.2513A>G (p.Asp838Gly)
2g.144398653T>GCA57554997ZEB2c.*2383A>C (n.*2383A>C)
c.1757A>C (p.Asp586Ala)
c.2534A>C (p.Asp845Ala)
n.2503A>C
c.2198A>C (p.Asp733Ala)
c.2609A>C (p.Asp870Ala)
c.*2251A>C (n.*2251A>C)
n.2634A>C
c.65A>C (p.Asp22Ala)
c.2531A>C (p.Asp844Ala)
c.655+2546A>C (n.655+2546A>C)
c.1168-725A>C (n.1168-725A>C)
c.2462A>C (p.Asp821Ala)
c.2525A>C (p.Asp842Ala)
c.2513A>C (p.Asp838Ala)
 dbSNP gnomAD v4
2g.144398653T=CA1294884978ZEB2c.*2383A= (n.*2383A=)
c.1757A= (p.Asp586=)
c.2534A= (p.Asp845=)
n.2503A=
c.2198A= (p.Asp733=)
c.2609A= (p.Asp870=)
c.*2251A= (n.*2251A=)
n.2634A=
c.65A= (p.Asp22=)
c.2531A= (p.Asp844=)
c.655+2546A= (n.655+2546A=)
c.1168-725A= (n.1168-725A=)
c.2462A= (p.Asp821=)
c.2525A= (p.Asp842=)
c.2513A= (p.Asp838=)
2g.144398654C>ACA1898237ZEB2c.*2382G>T (n.*2382G>T)
c.1756G>T (p.Asp586Tyr)
c.2533G>T (p.Asp845Tyr)
n.2502G>T
c.2197G>T (p.Asp733Tyr)
c.2608G>T (p.Asp870Tyr)
c.*2250G>T (n.*2250G>T)
n.2633G>T
c.64G>T (p.Asp22Tyr)
c.2530G>T (p.Asp844Tyr)
c.655+2545G>T (n.655+2545G>T)
c.1168-726G>T (n.1168-726G>T)
c.2461G>T (p.Asp821Tyr)
c.2524G>T (p.Asp842Tyr)
c.2512G>T (p.Asp838Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.144398654C=CA1294884979ZEB2c.*2382G= (n.*2382G=)
c.1756G= (p.Asp586=)
c.2533G= (p.Asp845=)
n.2502G=
c.2197G= (p.Asp733=)
c.2608G= (p.Asp870=)
c.*2250G= (n.*2250G=)
n.2633G=
c.64G= (p.Asp22=)
c.2530G= (p.Asp844=)
c.655+2545G= (n.655+2545G=)
c.1168-726G= (n.1168-726G=)
c.2461G= (p.Asp821=)
c.2524G= (p.Asp842=)
c.2512G= (p.Asp838=)
2g.144398654C>GCA348708065ZEB2c.*2382G>C (n.*2382G>C)
c.1756G>C (p.Asp586His)
c.2533G>C (p.Asp845His)
n.2502G>C
c.2197G>C (p.Asp733His)
c.2608G>C (p.Asp870His)
c.*2250G>C (n.*2250G>C)
n.2633G>C
c.64G>C (p.Asp22His)
c.2530G>C (p.Asp844His)
c.655+2545G>C (n.655+2545G>C)
c.1168-726G>C (n.1168-726G>C)
c.2461G>C (p.Asp821His)
c.2524G>C (p.Asp842His)
c.2512G>C (p.Asp838His)
2g.144398654C>TCA348708064ZEB2c.*2382G>A (n.*2382G>A)
c.1756G>A (p.Asp586Asn)
c.2533G>A (p.Asp845Asn)
n.2502G>A
c.2197G>A (p.Asp733Asn)
c.2608G>A (p.Asp870Asn)
c.*2250G>A (n.*2250G>A)
n.2633G>A
c.64G>A (p.Asp22Asn)
c.2530G>A (p.Asp844Asn)
c.655+2545G>A (n.655+2545G>A)
c.1168-726G>A (n.1168-726G>A)
c.2461G>A (p.Asp821Asn)
c.2524G>A (p.Asp842Asn)
c.2512G>A (p.Asp838Asn)
 gnomAD v4
2g.144398655T>ACA348708066ZEB2c.*2381A>T (n.*2381A>T)
c.1755A>T (p.Leu585Phe)
c.2532A>T (p.Leu844Phe)
n.2501A>T
c.2196A>T (p.Leu732Phe)
c.2607A>T (p.Leu869Phe)
c.*2249A>T (n.*2249A>T)
n.2632A>T
c.63A>T (p.Leu21Phe)
c.2529A>T (p.Leu843Phe)
c.655+2544A>T (n.655+2544A>T)
c.1168-727A>T (n.1168-727A>T)
c.2460A>T (p.Leu820Phe)
c.2523A>T (p.Leu841Phe)
c.2511A>T (p.Leu837Phe)
2g.144398655T>CCA429445671ZEB2c.*2381A>G (n.*2381A>G)
c.1755A>G (p.Leu585=)
c.2532A>G (p.Leu844=)
n.2501A>G
c.2196A>G (p.Leu732=)
c.2607A>G (p.Leu869=)
c.*2249A>G (n.*2249A>G)
n.2632A>G
c.63A>G (p.Leu21=)
c.2529A>G (p.Leu843=)
c.655+2544A>G (n.655+2544A>G)
c.1168-727A>G (n.1168-727A>G)
c.2460A>G (p.Leu820=)
c.2523A>G (p.Leu841=)
c.2511A>G (p.Leu837=)
2g.144398655T>GCA57555006ZEB2c.*2381A>C (n.*2381A>C)
c.1755A>C (p.Leu585Phe)
c.2532A>C (p.Leu844Phe)
n.2501A>C
c.2196A>C (p.Leu732Phe)
c.2607A>C (p.Leu869Phe)
c.*2249A>C (n.*2249A>C)
n.2632A>C
c.63A>C (p.Leu21Phe)
c.2529A>C (p.Leu843Phe)
c.655+2544A>C (n.655+2544A>C)
c.1168-727A>C (n.1168-727A>C)
c.2460A>C (p.Leu820Phe)
c.2523A>C (p.Leu841Phe)
c.2511A>C (p.Leu837Phe)
 dbSNP
2g.144398655T=CA1294884980ZEB2c.*2381A= (n.*2381A=)
c.1755A= (p.Leu585=)
c.2532A= (p.Leu844=)
n.2501A=
c.2196A= (p.Leu732=)
c.2607A= (p.Leu869=)
c.*2249A= (n.*2249A=)
n.2632A=
c.63A= (p.Leu21=)
c.2529A= (p.Leu843=)
c.655+2544A= (n.655+2544A=)
c.1168-727A= (n.1168-727A=)
c.2460A= (p.Leu820=)
c.2523A= (p.Leu841=)
c.2511A= (p.Leu837=)
2g.144398656A>CCA348708067ZEB2c.*2380T>G (n.*2380T>G)
c.1754T>G (p.Leu585Ter)
c.2531T>G (p.Leu844Ter)
n.2500T>G
c.2195T>G (p.Leu732Ter)
c.2606T>G (p.Leu869Ter)
c.*2248T>G (n.*2248T>G)
n.2631T>G
c.62T>G (p.Leu21Ter)
c.2528T>G (p.Leu843Ter)
c.655+2543T>G (n.655+2543T>G)
c.1168-728T>G (n.1168-728T>G)
c.2459T>G (p.Leu820Ter)
c.2522T>G (p.Leu841Ter)
c.2510T>G (p.Leu837Ter)
 ClinVar
2g.144398656A>GCA348708068ZEB2c.*2380T>C (n.*2380T>C)
c.1754T>C (p.Leu585Ser)
c.2531T>C (p.Leu844Ser)
n.2500T>C
c.2195T>C (p.Leu732Ser)
c.2606T>C (p.Leu869Ser)
c.*2248T>C (n.*2248T>C)
n.2631T>C
c.62T>C (p.Leu21Ser)
c.2528T>C (p.Leu843Ser)
c.655+2543T>C (n.655+2543T>C)
c.1168-728T>C (n.1168-728T>C)
c.2459T>C (p.Leu820Ser)
c.2522T>C (p.Leu841Ser)
c.2510T>C (p.Leu837Ser)
2g.144398656A>TCA348708069ZEB2c.*2380T>A (n.*2380T>A)
c.1754T>A (p.Leu585Ter)
c.2531T>A (p.Leu844Ter)
n.2500T>A
c.2195T>A (p.Leu732Ter)
c.2606T>A (p.Leu869Ter)
c.*2248T>A (n.*2248T>A)
n.2631T>A
c.62T>A (p.Leu21Ter)
c.2528T>A (p.Leu843Ter)
c.655+2543T>A (n.655+2543T>A)
c.1168-728T>A (n.1168-728T>A)
c.2459T>A (p.Leu820Ter)
c.2522T>A (p.Leu841Ter)
c.2510T>A (p.Leu837Ter)
2g.144398657A>CCA348708070ZEB2c.*2379T>G (n.*2379T>G)
c.1753T>G (p.Leu585Val)
c.2530T>G (p.Leu844Val)
n.2499T>G
c.2194T>G (p.Leu732Val)
c.2605T>G (p.Leu869Val)
c.*2247T>G (n.*2247T>G)
n.2630T>G
c.61T>G (p.Leu21Val)
c.2527T>G (p.Leu843Val)
c.655+2542T>G (n.655+2542T>G)
c.1168-729T>G (n.1168-729T>G)
c.2458T>G (p.Leu820Val)
c.2521T>G (p.Leu841Val)
c.2509T>G (p.Leu837Val)
2g.144398657A>GCA429445676ZEB2c.*2379T>C (n.*2379T>C)
c.1753T>C (p.Leu585=)
c.2530T>C (p.Leu844=)
n.2499T>C
c.2194T>C (p.Leu732=)
c.2605T>C (p.Leu869=)
c.*2247T>C (n.*2247T>C)
n.2630T>C
c.61T>C (p.Leu21=)
c.2527T>C (p.Leu843=)
c.655+2542T>C (n.655+2542T>C)
c.1168-729T>C (n.1168-729T>C)
c.2458T>C (p.Leu820=)
c.2521T>C (p.Leu841=)
c.2509T>C (p.Leu837=)
2g.144398657A>TCA348708071ZEB2c.*2379T>A (n.*2379T>A)
c.1753T>A (p.Leu585Ile)
c.2530T>A (p.Leu844Ile)
n.2499T>A
c.2194T>A (p.Leu732Ile)
c.2605T>A (p.Leu869Ile)
c.*2247T>A (n.*2247T>A)
n.2630T>A
c.61T>A (p.Leu21Ile)
c.2527T>A (p.Leu843Ile)
c.655+2542T>A (n.655+2542T>A)
c.1168-729T>A (n.1168-729T>A)
c.2458T>A (p.Leu820Ile)
c.2521T>A (p.Leu841Ile)
c.2509T>A (p.Leu837Ile)
2g.144398658A>CCA348708072ZEB2c.*2378T>G (n.*2378T>G)
c.1752T>G (p.Ser584Arg)
c.2529T>G (p.Ser843Arg)
n.2498T>G
c.2193T>G (p.Ser731Arg)
c.2604T>G (p.Ser868Arg)
c.*2246T>G (n.*2246T>G)
n.2629T>G
c.60T>G (p.Ser20Arg)
c.2526T>G (p.Ser842Arg)
c.655+2541T>G (n.655+2541T>G)
c.1168-730T>G (n.1168-730T>G)
c.2457T>G (p.Ser819Arg)
c.2520T>G (p.Ser840Arg)
c.2508T>G (p.Ser836Arg)
2g.144398658A>GCA429445677ZEB2c.*2378T>C (n.*2378T>C)
c.1752T>C (p.Ser584=)
c.2529T>C (p.Ser843=)
n.2498T>C
c.2193T>C (p.Ser731=)
c.2604T>C (p.Ser868=)
c.*2246T>C (n.*2246T>C)
n.2629T>C
c.60T>C (p.Ser20=)
c.2526T>C (p.Ser842=)
c.655+2541T>C (n.655+2541T>C)
c.1168-730T>C (n.1168-730T>C)
c.2457T>C (p.Ser819=)
c.2520T>C (p.Ser840=)
c.2508T>C (p.Ser836=)
2g.144398658A>TCA348708073ZEB2c.*2378T>A (n.*2378T>A)
c.1752T>A (p.Ser584Arg)
c.2529T>A (p.Ser843Arg)
n.2498T>A
c.2193T>A (p.Ser731Arg)
c.2604T>A (p.Ser868Arg)
c.*2246T>A (n.*2246T>A)
n.2629T>A
c.60T>A (p.Ser20Arg)
c.2526T>A (p.Ser842Arg)
c.655+2541T>A (n.655+2541T>A)
c.1168-730T>A (n.1168-730T>A)
c.2457T>A (p.Ser819Arg)
c.2520T>A (p.Ser840Arg)
c.2508T>A (p.Ser836Arg)
2g.144398659C>ACA1898238ZEB2c.*2377G>T (n.*2377G>T)
c.1751G>T (p.Ser584Ile)
c.2528G>T (p.Ser843Ile)
n.2497G>T
c.2192G>T (p.Ser731Ile)
c.2603G>T (p.Ser868Ile)
c.*2245G>T (n.*2245G>T)
n.2628G>T
c.59G>T (p.Ser20Ile)
c.2525G>T (p.Ser842Ile)
c.655+2540G>T (n.655+2540G>T)
c.1168-731G>T (n.1168-731G>T)
c.2456G>T (p.Ser819Ile)
c.2519G>T (p.Ser840Ile)
c.2507G>T (p.Ser836Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398659C=CA1294884981ZEB2c.*2377G= (n.*2377G=)
c.1751G= (p.Ser584=)
c.2528G= (p.Ser843=)
n.2497G=
c.2192G= (p.Ser731=)
c.2603G= (p.Ser868=)
c.*2245G= (n.*2245G=)
n.2628G=
c.59G= (p.Ser20=)
c.2525G= (p.Ser842=)
c.655+2540G= (n.655+2540G=)
c.1168-731G= (n.1168-731G=)
c.2456G= (p.Ser819=)
c.2519G= (p.Ser840=)
c.2507G= (p.Ser836=)
2g.144398659C>GCA348708074ZEB2c.*2377G>C (n.*2377G>C)
c.1751G>C (p.Ser584Thr)
c.2528G>C (p.Ser843Thr)
n.2497G>C
c.2192G>C (p.Ser731Thr)
c.2603G>C (p.Ser868Thr)
c.*2245G>C (n.*2245G>C)
n.2628G>C
c.59G>C (p.Ser20Thr)
c.2525G>C (p.Ser842Thr)
c.655+2540G>C (n.655+2540G>C)
c.1168-731G>C (n.1168-731G>C)
c.2456G>C (p.Ser819Thr)
c.2519G>C (p.Ser840Thr)
c.2507G>C (p.Ser836Thr)
 gnomAD v4
2g.144398659C>TCA348708075ZEB2c.*2377G>A (n.*2377G>A)
c.1751G>A (p.Ser584Asn)
c.2528G>A (p.Ser843Asn)
n.2497G>A
c.2192G>A (p.Ser731Asn)
c.2603G>A (p.Ser868Asn)
c.*2245G>A (n.*2245G>A)
n.2628G>A
c.59G>A (p.Ser20Asn)
c.2525G>A (p.Ser842Asn)
c.655+2540G>A (n.655+2540G>A)
c.1168-731G>A (n.1168-731G>A)
c.2456G>A (p.Ser819Asn)
c.2519G>A (p.Ser840Asn)
c.2507G>A (p.Ser836Asn)
2g.144398660T>ACA348708078ZEB2c.*2376A>T (n.*2376A>T)
c.1750A>T (p.Ser584Cys)
c.2527A>T (p.Ser843Cys)
n.2496A>T
c.2191A>T (p.Ser731Cys)
c.2602A>T (p.Ser868Cys)
c.*2244A>T (n.*2244A>T)
n.2627A>T
c.58A>T (p.Ser20Cys)
c.2524A>T (p.Ser842Cys)
c.655+2539A>T (n.655+2539A>T)
c.1168-732A>T (n.1168-732A>T)
c.2455A>T (p.Ser819Cys)
c.2518A>T (p.Ser840Cys)
c.2506A>T (p.Ser836Cys)
2g.144398660T>CCA348708077ZEB2c.*2376A>G (n.*2376A>G)
c.1750A>G (p.Ser584Gly)
c.2527A>G (p.Ser843Gly)
n.2496A>G
c.2191A>G (p.Ser731Gly)
c.2602A>G (p.Ser868Gly)
c.*2244A>G (n.*2244A>G)
n.2627A>G
c.58A>G (p.Ser20Gly)
c.2524A>G (p.Ser842Gly)
c.655+2539A>G (n.655+2539A>G)
c.1168-732A>G (n.1168-732A>G)
c.2455A>G (p.Ser819Gly)
c.2518A>G (p.Ser840Gly)
c.2506A>G (p.Ser836Gly)
2g.144398660T>GCA348708076ZEB2c.*2376A>C (n.*2376A>C)
c.1750A>C (p.Ser584Arg)
c.2527A>C (p.Ser843Arg)
n.2496A>C
c.2191A>C (p.Ser731Arg)
c.2602A>C (p.Ser868Arg)
c.*2244A>C (n.*2244A>C)
n.2627A>C
c.58A>C (p.Ser20Arg)
c.2524A>C (p.Ser842Arg)
c.655+2539A>C (n.655+2539A>C)
c.1168-732A>C (n.1168-732A>C)
c.2455A>C (p.Ser819Arg)
c.2518A>C (p.Ser840Arg)
c.2506A>C (p.Ser836Arg)
2g.144398661G>ACA429445681ZEB2c.*2375C>T (n.*2375C>T)
c.1749C>T (p.Ile583=)
c.2526C>T (p.Ile842=)
n.2495C>T
c.2190C>T (p.Ile730=)
c.2601C>T (p.Ile867=)
c.*2243C>T (n.*2243C>T)
n.2626C>T
c.57C>T (p.Ile19=)
c.2523C>T (p.Ile841=)
c.655+2538C>T (n.655+2538C>T)
c.1168-733C>T (n.1168-733C>T)
c.2454C>T (p.Ile818=)
c.2517C>T (p.Ile839=)
c.2505C>T (p.Ile835=)
2g.144398661G>CCA348708079ZEB2c.*2375C>G (n.*2375C>G)
c.1749C>G (p.Ile583Met)
c.2526C>G (p.Ile842Met)
n.2495C>G
c.2190C>G (p.Ile730Met)
c.2601C>G (p.Ile867Met)
c.*2243C>G (n.*2243C>G)
n.2626C>G
c.57C>G (p.Ile19Met)
c.2523C>G (p.Ile841Met)
c.655+2538C>G (n.655+2538C>G)
c.1168-733C>G (n.1168-733C>G)
c.2454C>G (p.Ile818Met)
c.2517C>G (p.Ile839Met)
c.2505C>G (p.Ile835Met)
2g.144398661G>TCA429445682ZEB2c.*2375C>A (n.*2375C>A)
c.1749C>A (p.Ile583=)
c.2526C>A (p.Ile842=)
n.2495C>A
c.2190C>A (p.Ile730=)
c.2601C>A (p.Ile867=)
c.*2243C>A (n.*2243C>A)
n.2626C>A
c.57C>A (p.Ile19=)
c.2523C>A (p.Ile841=)
c.655+2538C>A (n.655+2538C>A)
c.1168-733C>A (n.1168-733C>A)
c.2454C>A (p.Ile818=)
c.2517C>A (p.Ile839=)
c.2505C>A (p.Ile835=)
 COSMIC
2g.144398662A=CA1294884982ZEB2c.*2374T= (n.*2374T=)
c.1748T= (p.Ile583=)
c.2525T= (p.Ile842=)
n.2494T=
c.2189T= (p.Ile730=)
c.2600T= (p.Ile867=)
c.*2242T= (n.*2242T=)
n.2625T=
c.56T= (p.Ile19=)
c.2522T= (p.Ile841=)
c.655+2537T= (n.655+2537T=)
c.1168-734T= (n.1168-734T=)
c.2453T= (p.Ile818=)
c.2516T= (p.Ile839=)
c.2504T= (p.Ile835=)
2g.144398662A>CCA348708080ZEB2c.*2374T>G (n.*2374T>G)
c.1748T>G (p.Ile583Ser)
c.2525T>G (p.Ile842Ser)
n.2494T>G
c.2189T>G (p.Ile730Ser)
c.2600T>G (p.Ile867Ser)
c.*2242T>G (n.*2242T>G)
n.2625T>G
c.56T>G (p.Ile19Ser)
c.2522T>G (p.Ile841Ser)
c.655+2537T>G (n.655+2537T>G)
c.1168-734T>G (n.1168-734T>G)
c.2453T>G (p.Ile818Ser)
c.2516T>G (p.Ile839Ser)
c.2504T>G (p.Ile835Ser)
2g.144398662A>GCA348708081ZEB2c.*2374T>C (n.*2374T>C)
c.1748T>C (p.Ile583Thr)
c.2525T>C (p.Ile842Thr)
n.2494T>C
c.2189T>C (p.Ile730Thr)
c.2600T>C (p.Ile867Thr)
c.*2242T>C (n.*2242T>C)
n.2625T>C
c.56T>C (p.Ile19Thr)
c.2522T>C (p.Ile841Thr)
c.655+2537T>C (n.655+2537T>C)
c.1168-734T>C (n.1168-734T>C)
c.2453T>C (p.Ile818Thr)
c.2516T>C (p.Ile839Thr)
c.2504T>C (p.Ile835Thr)
 dbSNP
2g.144398662A>TCA348708082ZEB2c.*2374T>A (n.*2374T>A)
c.1748T>A (p.Ile583Asn)
c.2525T>A (p.Ile842Asn)
n.2494T>A
c.2189T>A (p.Ile730Asn)
c.2600T>A (p.Ile867Asn)
c.*2242T>A (n.*2242T>A)
n.2625T>A
c.56T>A (p.Ile19Asn)
c.2522T>A (p.Ile841Asn)
c.655+2537T>A (n.655+2537T>A)
c.1168-734T>A (n.1168-734T>A)
c.2453T>A (p.Ile818Asn)
c.2516T>A (p.Ile839Asn)
c.2504T>A (p.Ile835Asn)
2g.144398663T>ACA348708083ZEB2c.*2373A>T (n.*2373A>T)
c.1747A>T (p.Ile583Phe)
c.2524A>T (p.Ile842Phe)
n.2493A>T
c.2188A>T (p.Ile730Phe)
c.2599A>T (p.Ile867Phe)
c.*2241A>T (n.*2241A>T)
n.2624A>T
c.55A>T (p.Ile19Phe)
c.2521A>T (p.Ile841Phe)
c.655+2536A>T (n.655+2536A>T)
c.1168-735A>T (n.1168-735A>T)
c.2452A>T (p.Ile818Phe)
c.2515A>T (p.Ile839Phe)
c.2503A>T (p.Ile835Phe)
2g.144398663T>CCA348708084ZEB2c.*2373A>G (n.*2373A>G)
c.1747A>G (p.Ile583Val)
c.2524A>G (p.Ile842Val)
n.2493A>G
c.2188A>G (p.Ile730Val)
c.2599A>G (p.Ile867Val)
c.*2241A>G (n.*2241A>G)
n.2624A>G
c.55A>G (p.Ile19Val)
c.2521A>G (p.Ile841Val)
c.655+2536A>G (n.655+2536A>G)
c.1168-735A>G (n.1168-735A>G)
c.2452A>G (p.Ile818Val)
c.2515A>G (p.Ile839Val)
c.2503A>G (p.Ile835Val)
 gnomAD v4
2g.144398663T>GCA348708085ZEB2c.*2373A>C (n.*2373A>C)
c.1747A>C (p.Ile583Leu)
c.2524A>C (p.Ile842Leu)
n.2493A>C
c.2188A>C (p.Ile730Leu)
c.2599A>C (p.Ile867Leu)
c.*2241A>C (n.*2241A>C)
n.2624A>C
c.55A>C (p.Ile19Leu)
c.2521A>C (p.Ile841Leu)
c.655+2536A>C (n.655+2536A>C)
c.1168-735A>C (n.1168-735A>C)
c.2452A>C (p.Ile818Leu)
c.2515A>C (p.Ile839Leu)
c.2503A>C (p.Ile835Leu)
2g.144398664G>ACA1898239ZEB2c.*2372C>T (n.*2372C>T)
c.1746C>T (p.Ser582=)
c.2523C>T (p.Ser841=)
n.2492C>T
c.2187C>T (p.Ser729=)
c.2598C>T (p.Ser866=)
c.*2240C>T (n.*2240C>T)
n.2623C>T
c.54C>T (p.Ser18=)
c.2520C>T (p.Ser840=)
c.655+2535C>T (n.655+2535C>T)
c.1168-736C>T (n.1168-736C>T)
c.2451C>T (p.Ser817=)
c.2514C>T (p.Ser838=)
c.2502C>T (p.Ser834=)
 dbSNP ExAC gnomAD v4
2g.144398664G>CCA348708086ZEB2c.*2372C>G (n.*2372C>G)
c.1746C>G (p.Ser582Arg)
c.2523C>G (p.Ser841Arg)
n.2492C>G
c.2187C>G (p.Ser729Arg)
c.2598C>G (p.Ser866Arg)
c.*2240C>G (n.*2240C>G)
n.2623C>G
c.54C>G (p.Ser18Arg)
c.2520C>G (p.Ser840Arg)
c.655+2535C>G (n.655+2535C>G)
c.1168-736C>G (n.1168-736C>G)
c.2451C>G (p.Ser817Arg)
c.2514C>G (p.Ser838Arg)
c.2502C>G (p.Ser834Arg)
2g.144398664G=CA1294884983ZEB2c.*2372C= (n.*2372C=)
c.1746C= (p.Ser582=)
c.2523C= (p.Ser841=)
n.2492C=
c.2187C= (p.Ser729=)
c.2598C= (p.Ser866=)
c.*2240C= (n.*2240C=)
n.2623C=
c.54C= (p.Ser18=)
c.2520C= (p.Ser840=)
c.655+2535C= (n.655+2535C=)
c.1168-736C= (n.1168-736C=)
c.2451C= (p.Ser817=)
c.2514C= (p.Ser838=)
c.2502C= (p.Ser834=)
2g.144398664G>TCA348708087ZEB2c.*2372C>A (n.*2372C>A)
c.1746C>A (p.Ser582Arg)
c.2523C>A (p.Ser841Arg)
n.2492C>A
c.2187C>A (p.Ser729Arg)
c.2598C>A (p.Ser866Arg)
c.*2240C>A (n.*2240C>A)
n.2623C>A
c.54C>A (p.Ser18Arg)
c.2520C>A (p.Ser840Arg)
c.655+2535C>A (n.655+2535C>A)
c.1168-736C>A (n.1168-736C>A)
c.2451C>A (p.Ser817Arg)
c.2514C>A (p.Ser838Arg)
c.2502C>A (p.Ser834Arg)
2g.144398665C>ACA348708088ZEB2c.*2371G>T (n.*2371G>T)
c.1745G>T (p.Ser582Ile)
c.2522G>T (p.Ser841Ile)
n.2491G>T
c.2186G>T (p.Ser729Ile)
c.2597G>T (p.Ser866Ile)
c.*2239G>T (n.*2239G>T)
n.2622G>T
c.53G>T (p.Ser18Ile)
c.2519G>T (p.Ser840Ile)
c.655+2534G>T (n.655+2534G>T)
c.1168-737G>T (n.1168-737G>T)
c.2450G>T (p.Ser817Ile)
c.2513G>T (p.Ser838Ile)
c.2501G>T (p.Ser834Ile)
2g.144398665C>GCA348708089ZEB2c.*2371G>C (n.*2371G>C)
c.1745G>C (p.Ser582Thr)
c.2522G>C (p.Ser841Thr)
n.2491G>C
c.2186G>C (p.Ser729Thr)
c.2597G>C (p.Ser866Thr)
c.*2239G>C (n.*2239G>C)
n.2622G>C
c.53G>C (p.Ser18Thr)
c.2519G>C (p.Ser840Thr)
c.655+2534G>C (n.655+2534G>C)
c.1168-737G>C (n.1168-737G>C)
c.2450G>C (p.Ser817Thr)
c.2513G>C (p.Ser838Thr)
c.2501G>C (p.Ser834Thr)
2g.144398665C>TCA348708090ZEB2c.*2371G>A (n.*2371G>A)
c.1745G>A (p.Ser582Asn)
c.2522G>A (p.Ser841Asn)
n.2491G>A
c.2186G>A (p.Ser729Asn)
c.2597G>A (p.Ser866Asn)
c.*2239G>A (n.*2239G>A)
n.2622G>A
c.53G>A (p.Ser18Asn)
c.2519G>A (p.Ser840Asn)
c.655+2534G>A (n.655+2534G>A)
c.1168-737G>A (n.1168-737G>A)
c.2450G>A (p.Ser817Asn)
c.2513G>A (p.Ser838Asn)
c.2501G>A (p.Ser834Asn)
 gnomAD v4
2g.144398666T>ACA348708093ZEB2c.*2370A>T (n.*2370A>T)
c.1744A>T (p.Ser582Cys)
c.2521A>T (p.Ser841Cys)
n.2490A>T
c.2185A>T (p.Ser729Cys)
c.2596A>T (p.Ser866Cys)
c.*2238A>T (n.*2238A>T)
n.2621A>T
c.52A>T (p.Ser18Cys)
c.2518A>T (p.Ser840Cys)
c.655+2533A>T (n.655+2533A>T)
c.1168-738A>T (n.1168-738A>T)
c.2449A>T (p.Ser817Cys)
c.2512A>T (p.Ser838Cys)
c.2500A>T (p.Ser834Cys)
2g.144398666T>CCA348708094ZEB2c.*2370A>G (n.*2370A>G)
c.1744A>G (p.Ser582Gly)
c.2521A>G (p.Ser841Gly)
n.2490A>G
c.2185A>G (p.Ser729Gly)
c.2596A>G (p.Ser866Gly)
c.*2238A>G (n.*2238A>G)
n.2621A>G
c.52A>G (p.Ser18Gly)
c.2518A>G (p.Ser840Gly)
c.655+2533A>G (n.655+2533A>G)
c.1168-738A>G (n.1168-738A>G)
c.2449A>G (p.Ser817Gly)
c.2512A>G (p.Ser838Gly)
c.2500A>G (p.Ser834Gly)
2g.144398666T>GCA348708092ZEB2c.*2370A>C (n.*2370A>C)
c.1744A>C (p.Ser582Arg)
c.2521A>C (p.Ser841Arg)
n.2490A>C
c.2185A>C (p.Ser729Arg)
c.2596A>C (p.Ser866Arg)
c.*2238A>C (n.*2238A>C)
n.2621A>C
c.52A>C (p.Ser18Arg)
c.2518A>C (p.Ser840Arg)
c.655+2533A>C (n.655+2533A>C)
c.1168-738A>C (n.1168-738A>C)
c.2449A>C (p.Ser817Arg)
c.2512A>C (p.Ser838Arg)
c.2500A>C (p.Ser834Arg)
 dbSNP
2g.144398667A>CCA348708095ZEB2c.*2369T>G (n.*2369T>G)
c.1743T>G (p.Ser581Arg)
c.2520T>G (p.Ser840Arg)
n.2489T>G
c.2184T>G (p.Ser728Arg)
c.2595T>G (p.Ser865Arg)
c.*2237T>G (n.*2237T>G)
n.2620T>G
c.51T>G (p.Ser17Arg)
c.2517T>G (p.Ser839Arg)
c.655+2532T>G (n.655+2532T>G)
c.1168-739T>G (n.1168-739T>G)
c.2448T>G (p.Ser816Arg)
c.2511T>G (p.Ser837Arg)
c.2499T>G (p.Ser833Arg)
2g.144398667A>GCA429445687ZEB2c.*2369T>C (n.*2369T>C)
c.1743T>C (p.Ser581=)
c.2520T>C (p.Ser840=)
n.2489T>C
c.2184T>C (p.Ser728=)
c.2595T>C (p.Ser865=)
c.*2237T>C (n.*2237T>C)
n.2620T>C
c.51T>C (p.Ser17=)
c.2517T>C (p.Ser839=)
c.655+2532T>C (n.655+2532T>C)
c.1168-739T>C (n.1168-739T>C)
c.2448T>C (p.Ser816=)
c.2511T>C (p.Ser837=)
c.2499T>C (p.Ser833=)
 gnomAD v4
2g.144398667A>TCA348708096ZEB2c.*2369T>A (n.*2369T>A)
c.1743T>A (p.Ser581Arg)
c.2520T>A (p.Ser840Arg)
n.2489T>A
c.2184T>A (p.Ser728Arg)
c.2595T>A (p.Ser865Arg)
c.*2237T>A (n.*2237T>A)
n.2620T>A
c.51T>A (p.Ser17Arg)
c.2517T>A (p.Ser839Arg)
c.655+2532T>A (n.655+2532T>A)
c.1168-739T>A (n.1168-739T>A)
c.2448T>A (p.Ser816Arg)
c.2511T>A (p.Ser837Arg)
c.2499T>A (p.Ser833Arg)
2g.144398668C>ACA348708097ZEB2c.*2368G>T (n.*2368G>T)
c.1742G>T (p.Ser581Ile)
c.2519G>T (p.Ser840Ile)
n.2488G>T
c.2183G>T (p.Ser728Ile)
c.2594G>T (p.Ser865Ile)
c.*2236G>T (n.*2236G>T)
n.2619G>T
c.50G>T (p.Ser17Ile)
c.2516G>T (p.Ser839Ile)
c.655+2531G>T (n.655+2531G>T)
c.1168-740G>T (n.1168-740G>T)
c.2447G>T (p.Ser816Ile)
c.2510G>T (p.Ser837Ile)
c.2498G>T (p.Ser833Ile)
 COSMIC
2g.144398668C=CA1294884984ZEB2c.*2368G= (n.*2368G=)
c.1742G= (p.Ser581=)
c.2519G= (p.Ser840=)
n.2488G=
c.2183G= (p.Ser728=)
c.2594G= (p.Ser865=)
c.*2236G= (n.*2236G=)
n.2619G=
c.50G= (p.Ser17=)
c.2516G= (p.Ser839=)
c.655+2531G= (n.655+2531G=)
c.1168-740G= (n.1168-740G=)
c.2447G= (p.Ser816=)
c.2510G= (p.Ser837=)
c.2498G= (p.Ser833=)
2g.144398668C>GCA348708098ZEB2c.*2368G>C (n.*2368G>C)
c.1742G>C (p.Ser581Thr)
c.2519G>C (p.Ser840Thr)
n.2488G>C
c.2183G>C (p.Ser728Thr)
c.2594G>C (p.Ser865Thr)
c.*2236G>C (n.*2236G>C)
n.2619G>C
c.50G>C (p.Ser17Thr)
c.2516G>C (p.Ser839Thr)
c.655+2531G>C (n.655+2531G>C)
c.1168-740G>C (n.1168-740G>C)
c.2447G>C (p.Ser816Thr)
c.2510G>C (p.Ser837Thr)
c.2498G>C (p.Ser833Thr)
 dbSNP gnomAD v2
2g.144398668C>TCA348708099ZEB2c.*2368G>A (n.*2368G>A)
c.1742G>A (p.Ser581Asn)
c.2519G>A (p.Ser840Asn)
n.2488G>A
c.2183G>A (p.Ser728Asn)
c.2594G>A (p.Ser865Asn)
c.*2236G>A (n.*2236G>A)
n.2619G>A
c.50G>A (p.Ser17Asn)
c.2516G>A (p.Ser839Asn)
c.655+2531G>A (n.655+2531G>A)
c.1168-740G>A (n.1168-740G>A)
c.2447G>A (p.Ser816Asn)
c.2510G>A (p.Ser837Asn)
c.2498G>A (p.Ser833Asn)
 ClinVar dbSNP gnomAD v4
2g.144398669T>ACA348708100ZEB2c.*2367A>T (n.*2367A>T)
c.1741A>T (p.Ser581Cys)
c.2518A>T (p.Ser840Cys)
n.2487A>T
c.2182A>T (p.Ser728Cys)
c.2593A>T (p.Ser865Cys)
c.*2235A>T (n.*2235A>T)
n.2618A>T
c.49A>T (p.Ser17Cys)
c.2515A>T (p.Ser839Cys)
c.655+2530A>T (n.655+2530A>T)
c.1168-741A>T (n.1168-741A>T)
c.2446A>T (p.Ser816Cys)
c.2509A>T (p.Ser837Cys)
c.2497A>T (p.Ser833Cys)
2g.144398669T>CCA348708101ZEB2c.*2367A>G (n.*2367A>G)
c.1741A>G (p.Ser581Gly)
c.2518A>G (p.Ser840Gly)
n.2487A>G
c.2182A>G (p.Ser728Gly)
c.2593A>G (p.Ser865Gly)
c.*2235A>G (n.*2235A>G)
n.2618A>G
c.49A>G (p.Ser17Gly)
c.2515A>G (p.Ser839Gly)
c.655+2530A>G (n.655+2530A>G)
c.1168-741A>G (n.1168-741A>G)
c.2446A>G (p.Ser816Gly)
c.2509A>G (p.Ser837Gly)
c.2497A>G (p.Ser833Gly)
 gnomAD v4
2g.144398669T>GCA348708102ZEB2c.*2367A>C (n.*2367A>C)
c.1741A>C (p.Ser581Arg)
c.2518A>C (p.Ser840Arg)
n.2487A>C
c.2182A>C (p.Ser728Arg)
c.2593A>C (p.Ser865Arg)
c.*2235A>C (n.*2235A>C)
n.2618A>C
c.49A>C (p.Ser17Arg)
c.2515A>C (p.Ser839Arg)
c.655+2530A>C (n.655+2530A>C)
c.1168-741A>C (n.1168-741A>C)
c.2446A>C (p.Ser816Arg)
c.2509A>C (p.Ser837Arg)
c.2497A>C (p.Ser833Arg)
2g.144398670A>CCA429445689ZEB2c.*2366T>G (n.*2366T>G)
c.1740T>G (p.Ala580=)
c.2517T>G (p.Ala839=)
n.2486T>G
c.2181T>G (p.Ala727=)
c.2592T>G (p.Ala864=)
c.*2234T>G (n.*2234T>G)
n.2617T>G
c.48T>G (p.Ala16=)
c.2514T>G (p.Ala838=)
c.655+2529T>G (n.655+2529T>G)
c.1168-742T>G (n.1168-742T>G)
c.2445T>G (p.Ala815=)
c.2508T>G (p.Ala836=)
c.2496T>G (p.Ala832=)
2g.144398670A>GCA429445690ZEB2c.*2366T>C (n.*2366T>C)
c.1740T>C (p.Ala580=)
c.2517T>C (p.Ala839=)
n.2486T>C
c.2181T>C (p.Ala727=)
c.2592T>C (p.Ala864=)
c.*2234T>C (n.*2234T>C)
n.2617T>C
c.48T>C (p.Ala16=)
c.2514T>C (p.Ala838=)
c.655+2529T>C (n.655+2529T>C)
c.1168-742T>C (n.1168-742T>C)
c.2445T>C (p.Ala815=)
c.2508T>C (p.Ala836=)
c.2496T>C (p.Ala832=)
 ClinVar gnomAD v3 gnomAD v4
2g.144398670A>TCA429445691ZEB2c.*2366T>A (n.*2366T>A)
c.1740T>A (p.Ala580=)
c.2517T>A (p.Ala839=)
n.2486T>A
c.2181T>A (p.Ala727=)
c.2592T>A (p.Ala864=)
c.*2234T>A (n.*2234T>A)
n.2617T>A
c.48T>A (p.Ala16=)
c.2514T>A (p.Ala838=)
c.655+2529T>A (n.655+2529T>A)
c.1168-742T>A (n.1168-742T>A)
c.2445T>A (p.Ala815=)
c.2508T>A (p.Ala836=)
c.2496T>A (p.Ala832=)
2g.144398671G>ACA348708103ZEB2c.*2365C>T (n.*2365C>T)
c.1739C>T (p.Ala580Val)
c.2516C>T (p.Ala839Val)
n.2485C>T
c.2180C>T (p.Ala727Val)
c.2591C>T (p.Ala864Val)
c.*2233C>T (n.*2233C>T)
n.2616C>T
c.47C>T (p.Ala16Val)
c.2513C>T (p.Ala838Val)
c.655+2528C>T (n.655+2528C>T)
c.1168-743C>T (n.1168-743C>T)
c.2444C>T (p.Ala815Val)
c.2507C>T (p.Ala836Val)
c.2495C>T (p.Ala832Val)
2g.144398671G>CCA1898240ZEB2c.*2365C>G (n.*2365C>G)
c.1739C>G (p.Ala580Gly)
c.2516C>G (p.Ala839Gly)
n.2485C>G
c.2180C>G (p.Ala727Gly)
c.2591C>G (p.Ala864Gly)
c.*2233C>G (n.*2233C>G)
n.2616C>G
c.47C>G (p.Ala16Gly)
c.2513C>G (p.Ala838Gly)
c.655+2528C>G (n.655+2528C>G)
c.1168-743C>G (n.1168-743C>G)
c.2444C>G (p.Ala815Gly)
c.2507C>G (p.Ala836Gly)
c.2495C>G (p.Ala832Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398671G=CA1294884985ZEB2c.*2365C= (n.*2365C=)
c.1739C= (p.Ala580=)
c.2516C= (p.Ala839=)
n.2485C=
c.2180C= (p.Ala727=)
c.2591C= (p.Ala864=)
c.*2233C= (n.*2233C=)
n.2616C=
c.47C= (p.Ala16=)
c.2513C= (p.Ala838=)
c.655+2528C= (n.655+2528C=)
c.1168-743C= (n.1168-743C=)
c.2444C= (p.Ala815=)
c.2507C= (p.Ala836=)
c.2495C= (p.Ala832=)
2g.144398671G>TCA348708104ZEB2c.*2365C>A (n.*2365C>A)
c.1739C>A (p.Ala580Asp)
c.2516C>A (p.Ala839Asp)
n.2485C>A
c.2180C>A (p.Ala727Asp)
c.2591C>A (p.Ala864Asp)
c.*2233C>A (n.*2233C>A)
n.2616C>A
c.47C>A (p.Ala16Asp)
c.2513C>A (p.Ala838Asp)
c.655+2528C>A (n.655+2528C>A)
c.1168-743C>A (n.1168-743C>A)
c.2444C>A (p.Ala815Asp)
c.2507C>A (p.Ala836Asp)
c.2495C>A (p.Ala832Asp)
2g.144398672C>ACA348708105ZEB2c.*2364G>T (n.*2364G>T)
c.1738G>T (p.Ala580Ser)
c.2515G>T (p.Ala839Ser)
n.2484G>T
c.2179G>T (p.Ala727Ser)
c.2590G>T (p.Ala864Ser)
c.*2232G>T (n.*2232G>T)
n.2615G>T
c.46G>T (p.Ala16Ser)
c.2512G>T (p.Ala838Ser)
c.655+2527G>T (n.655+2527G>T)
c.1168-744G>T (n.1168-744G>T)
c.2443G>T (p.Ala815Ser)
c.2506G>T (p.Ala836Ser)
c.2494G>T (p.Ala832Ser)
 gnomAD v4
2g.144398672C=CA1294884986ZEB2c.*2364G= (n.*2364G=)
c.1738G= (p.Ala580=)
c.2515G= (p.Ala839=)
n.2484G=
c.2179G= (p.Ala727=)
c.2590G= (p.Ala864=)
c.*2232G= (n.*2232G=)
n.2615G=
c.46G= (p.Ala16=)
c.2512G= (p.Ala838=)
c.655+2527G= (n.655+2527G=)
c.1168-744G= (n.1168-744G=)
c.2443G= (p.Ala815=)
c.2506G= (p.Ala836=)
c.2494G= (p.Ala832=)
2g.144398672C>GCA348708106ZEB2c.*2364G>C (n.*2364G>C)
c.1738G>C (p.Ala580Pro)
c.2515G>C (p.Ala839Pro)
n.2484G>C
c.2179G>C (p.Ala727Pro)
c.2590G>C (p.Ala864Pro)
c.*2232G>C (n.*2232G>C)
n.2615G>C
c.46G>C (p.Ala16Pro)
c.2512G>C (p.Ala838Pro)
c.655+2527G>C (n.655+2527G>C)
c.1168-744G>C (n.1168-744G>C)
c.2443G>C (p.Ala815Pro)
c.2506G>C (p.Ala836Pro)
c.2494G>C (p.Ala832Pro)
2g.144398672C>TCA348708107ZEB2c.*2364G>A (n.*2364G>A)
c.1738G>A (p.Ala580Thr)
c.2515G>A (p.Ala839Thr)
n.2484G>A
c.2179G>A (p.Ala727Thr)
c.2590G>A (p.Ala864Thr)
c.*2232G>A (n.*2232G>A)
n.2615G>A
c.46G>A (p.Ala16Thr)
c.2512G>A (p.Ala838Thr)
c.655+2527G>A (n.655+2527G>A)
c.1168-744G>A (n.1168-744G>A)
c.2443G>A (p.Ala815Thr)
c.2506G>A (p.Ala836Thr)
c.2494G>A (p.Ala832Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.144398673T>ACA348708109ZEB2c.*2363A>T (n.*2363A>T)
c.1737A>T (p.Lys579Asn)
c.2514A>T (p.Lys838Asn)
n.2483A>T
c.2178A>T (p.Lys726Asn)
c.2589A>T (p.Lys863Asn)
c.*2231A>T (n.*2231A>T)
n.2614A>T
c.45A>T (p.Lys15Asn)
c.2511A>T (p.Lys837Asn)
c.655+2526A>T (n.655+2526A>T)
c.1168-745A>T (n.1168-745A>T)
c.2442A>T (p.Lys814Asn)
c.2505A>T (p.Lys835Asn)
c.2493A>T (p.Lys831Asn)
2g.144398673T>CCA429445695ZEB2c.*2363A>G (n.*2363A>G)
c.1737A>G (p.Lys579=)
c.2514A>G (p.Lys838=)
n.2483A>G
c.2178A>G (p.Lys726=)
c.2589A>G (p.Lys863=)
c.*2231A>G (n.*2231A>G)
n.2614A>G
c.45A>G (p.Lys15=)
c.2511A>G (p.Lys837=)
c.655+2526A>G (n.655+2526A>G)
c.1168-745A>G (n.1168-745A>G)
c.2442A>G (p.Lys814=)
c.2505A>G (p.Lys835=)
c.2493A>G (p.Lys831=)
2g.144398673T>GCA348708108ZEB2c.*2363A>C (n.*2363A>C)
c.1737A>C (p.Lys579Asn)
c.2514A>C (p.Lys838Asn)
n.2483A>C
c.2178A>C (p.Lys726Asn)
c.2589A>C (p.Lys863Asn)
c.*2231A>C (n.*2231A>C)
n.2614A>C
c.45A>C (p.Lys15Asn)
c.2511A>C (p.Lys837Asn)
c.655+2526A>C (n.655+2526A>C)
c.1168-745A>C (n.1168-745A>C)
c.2442A>C (p.Lys814Asn)
c.2505A>C (p.Lys835Asn)
c.2493A>C (p.Lys831Asn)
2g.144398674T>ACA348708110ZEB2c.*2362A>T (n.*2362A>T)
c.1736A>T (p.Lys579Ile)
c.2513A>T (p.Lys838Ile)
n.2482A>T
c.2177A>T (p.Lys726Ile)
c.2588A>T (p.Lys863Ile)
c.*2230A>T (n.*2230A>T)
n.2613A>T
c.44A>T (p.Lys15Ile)
c.2510A>T (p.Lys837Ile)
c.655+2525A>T (n.655+2525A>T)
c.1168-746A>T (n.1168-746A>T)
c.2441A>T (p.Lys814Ile)
c.2504A>T (p.Lys835Ile)
c.2492A>T (p.Lys831Ile)
2g.144398674T>CCA348708111ZEB2c.*2362A>G (n.*2362A>G)
c.1736A>G (p.Lys579Arg)
c.2513A>G (p.Lys838Arg)
n.2482A>G
c.2177A>G (p.Lys726Arg)
c.2588A>G (p.Lys863Arg)
c.*2230A>G (n.*2230A>G)
n.2613A>G
c.44A>G (p.Lys15Arg)
c.2510A>G (p.Lys837Arg)
c.655+2525A>G (n.655+2525A>G)
c.1168-746A>G (n.1168-746A>G)
c.2441A>G (p.Lys814Arg)
c.2504A>G (p.Lys835Arg)
c.2492A>G (p.Lys831Arg)
2g.144398674T>GCA348708112ZEB2c.*2362A>C (n.*2362A>C)
c.1736A>C (p.Lys579Thr)
c.2513A>C (p.Lys838Thr)
n.2482A>C
c.2177A>C (p.Lys726Thr)
c.2588A>C (p.Lys863Thr)
c.*2230A>C (n.*2230A>C)
n.2613A>C
c.44A>C (p.Lys15Thr)
c.2510A>C (p.Lys837Thr)
c.655+2525A>C (n.655+2525A>C)
c.1168-746A>C (n.1168-746A>C)
c.2441A>C (p.Lys814Thr)
c.2504A>C (p.Lys835Thr)
c.2492A>C (p.Lys831Thr)
2g.144398675T>ACA348708113ZEB2c.*2361A>T (n.*2361A>T)
c.1735A>T (p.Lys579Ter)
c.2512A>T (p.Lys838Ter)
n.2481A>T
c.2176A>T (p.Lys726Ter)
c.2587A>T (p.Lys863Ter)
c.*2229A>T (n.*2229A>T)
n.2612A>T
c.43A>T (p.Lys15Ter)
c.2509A>T (p.Lys837Ter)
c.655+2524A>T (n.655+2524A>T)
c.1168-747A>T (n.1168-747A>T)
c.2440A>T (p.Lys814Ter)
c.2503A>T (p.Lys835Ter)
c.2491A>T (p.Lys831Ter)
2g.144398675T>CCA348708114ZEB2c.*2361A>G (n.*2361A>G)
c.1735A>G (p.Lys579Glu)
c.2512A>G (p.Lys838Glu)
n.2481A>G
c.2176A>G (p.Lys726Glu)
c.2587A>G (p.Lys863Glu)
c.*2229A>G (n.*2229A>G)
n.2612A>G
c.43A>G (p.Lys15Glu)
c.2509A>G (p.Lys837Glu)
c.655+2524A>G (n.655+2524A>G)
c.1168-747A>G (n.1168-747A>G)
c.2440A>G (p.Lys814Glu)
c.2503A>G (p.Lys835Glu)
c.2491A>G (p.Lys831Glu)
2g.144398675T>GCA348708115ZEB2c.*2361A>C (n.*2361A>C)
c.1735A>C (p.Lys579Gln)
c.2512A>C (p.Lys838Gln)
n.2481A>C
c.2176A>C (p.Lys726Gln)
c.2587A>C (p.Lys863Gln)
c.*2229A>C (n.*2229A>C)
n.2612A>C
c.43A>C (p.Lys15Gln)
c.2509A>C (p.Lys837Gln)
c.655+2524A>C (n.655+2524A>C)
c.1168-747A>C (n.1168-747A>C)
c.2440A>C (p.Lys814Gln)
c.2503A>C (p.Lys835Gln)
c.2491A>C (p.Lys831Gln)
2g.144398676T>ACA429445699ZEB2c.*2360A>T (n.*2360A>T)
c.1734A>T (p.Thr578=)
c.2511A>T (p.Thr837=)
n.2480A>T
c.2175A>T (p.Thr725=)
c.2586A>T (p.Thr862=)
c.*2228A>T (n.*2228A>T)
n.2611A>T
c.42A>T (p.Thr14=)
c.2508A>T (p.Thr836=)
c.655+2523A>T (n.655+2523A>T)
c.1168-748A>T (n.1168-748A>T)
c.2439A>T (p.Thr813=)
c.2502A>T (p.Thr834=)
c.2490A>T (p.Thr830=)
2g.144398676T>CCA429445700ZEB2c.*2360A>G (n.*2360A>G)
c.1734A>G (p.Thr578=)
c.2511A>G (p.Thr837=)
n.2480A>G
c.2175A>G (p.Thr725=)
c.2586A>G (p.Thr862=)
c.*2228A>G (n.*2228A>G)
n.2611A>G
c.42A>G (p.Thr14=)
c.2508A>G (p.Thr836=)
c.655+2523A>G (n.655+2523A>G)
c.1168-748A>G (n.1168-748A>G)
c.2439A>G (p.Thr813=)
c.2502A>G (p.Thr834=)
c.2490A>G (p.Thr830=)
2g.144398676T>GCA429445701ZEB2c.*2360A>C (n.*2360A>C)
c.1734A>C (p.Thr578=)
c.2511A>C (p.Thr837=)
n.2480A>C
c.2175A>C (p.Thr725=)
c.2586A>C (p.Thr862=)
c.*2228A>C (n.*2228A>C)
n.2611A>C
c.42A>C (p.Thr14=)
c.2508A>C (p.Thr836=)
c.655+2523A>C (n.655+2523A>C)
c.1168-748A>C (n.1168-748A>C)
c.2439A>C (p.Thr813=)
c.2502A>C (p.Thr834=)
c.2490A>C (p.Thr830=)

Number of alleles fetched